bluuebunny/crossref_metadata_2025 huggingface dataset:
Parentage testing and linkage analysis in the horse using a set of highly polymorphic microsatellites
Authors: Marklund S , Ellegren H , Eriksson S , Sandberg K , Andersson L , Marklund S , Ellegren H , Eriksson S , Sandberg K , Andersson L
Published: July 2010

Ten (TG)n positive clones, isolated from an equine genomic library and sequenced, contained 12–19 uninterrupted TG repeats. Primers for polymerase chain reaction (PCR) were synthesized and nine of these (TG)n loci (HTG7‐15) were successfully amplified and utilized in this study together with five previously reported equine microsatellite loci (HTG2‐6). The PCR products were analysed by polyacrylamide gel electrophoresis followed by automated laser fluorescence detection or autoradiography. All microsatellites showed polymorphism and stable Mendelian inheritance. Differences in microsatellite variability between horse breeds were detected. A linkage analysis comprising HTG2‐15, one coat colour gene and 16 genetic blood markers enabled addition of HTG2 to linkage group U2 and a new linkage group (U6) was established comprising the loci HTG7 and HTG12. Close linkage was excluded within a set of eight microsatellites. The estimated probability of exclusion in four breeds for a parentage test based on these eight loci varied between 0.96 and 0.99.
Biochemical and genetic analysis of variant C of caprine αs2‐casein (Capra hircus)
Authors: Bouniol C , Brignon G , Mahé M F , Printz C
Published: July 2010

Two alleles, A and B, were previously described at the goat αs2‐casein locus. Isoelectric focusing allowed us to subdivide the former one in two new alleles, called A and C. Although αs2‐casein C cannot actually be distinguished from its A counterpart by starch or polyacrylamide gel electrophoresis, it differs from the previous allele by a single substitution Lys (A)/Ile (C) at position 167, which was confirmed at the nucleotide level. The frequencies of the three αs2‐casein alleles A, B and C were estimated to be 0.85, 0.04 and 0.11 in the French dairy breeds ‘Alpine’ and ‘Saanen’.
Molecular heterogeneity for bovine maple syrup urine disease
Authors: Healy P. J. , Dennis J. A.
Published: July 2010

In Poll Herefords, it is known that maple syrup urine disease results from a nonsense mutation in codon ‐6 of the gene for the Elα subunit of branched‐chain α‐keto acid dehydrogenase. The disease also occurs in Poll Shorthorns, but its molecular basis in this breed has not yet been determined. Allele‐specific hybridization and allele‐specific amplification, both based on the Poll Hereford mutation, failed to detect the mutant allele in Poll Shorthorn heterozygotes, and detected the normal allele in affected Poll Hereford‐cross‐Poll Shorthorn calves. These results demonstrate between breed molecular heterogeneity for bovine maple syrup urine disease.
Casein haplotypes and their association with milk production traits in the Finnish Ayrshire cattle
Authors: Velmala R , Vilkki J , Elo K , Mäki‐Tanila A
Published: July 2010

Polymorphism of casein genes was studied in half‐sib families of artificial insemination bulls of the Finnish Ayrshire dairy breed. Ten grandsires and 300 of their sons were genotyped for the following polymorphisms: αS1‐casein (B, C), β‐casein (A1, A2), the microsatellite within the K‐casein gene (ms5, ms4) and K‐casein (A, B, E). Nine different combinations of these alleles, casein haplotypes, were found. Associations between casein haplotypes and milk production traits (milk and protein yield, fat and protein percentage and milking speed) were studied with ordinary least‐squares analysis to find a direct effect of the haplotypes or an association within individual grandsire families using the granddaughter design. Estimated breeding values of sons were obtained from cow evaluation by animal model. No direct effect of the casein haplotypes on the traits was found. Within grandsire families, in one out of four families the chromosomal segment characterized by haplotype 3 (B‐A2‐ms4‐A) was associated with an increase in milk yield (P<0.01) and a decrease in fat percentage (P< 0.01) when contrasted with haplotype 8 (B‐A1‐ms4‐E). The results provide evidence that in the Finnish Ayrshire breed at least one quantitative trait locus affecting the genetic variation in yields traits is segregating linked to either haplotype 3 (B‐A2‐ms4‐A) or 8 (B‐A1‐ms4‐E).
A swine SINE (PRE‐1 sequence) distribution in swine‐related animal species and its phylogenetic analysis in swine genome
Authors: Yasue H. , Wada Y.
Published: July 2010

The distribution of PRE‐1 sequence (a swine SINE) among the animal species related to Sus scrofa, i.e. Phacochoerus aethiopicus and Tayassu tajacu, was examined by dot‐blot analysis using PRE‐1 sequences as a probe. This revealed that Phacochoerus aethiopicus and Tayassu tajacu contained PRE‐1 sequences, amounts of which in their genomes are almost the same as that in the swine genome, indicating that these species separated after PRE‐1 sequences proliferated to diversify in the genome. In order to estimate the time when the PRE‐1 started to diversify in the swine genome, PRE‐1 sequences were extracted from GenBank DNA database by homology analysis using the PRE‐1 consensus sequence as a probe. The 22 PRE‐1 sequences obtained were aligned and their phylogenetic relation was calculated by the neighbour‐joining method. The result of the calculation combined with the mutation rate of the pseudogenes (r = 4.6 times 10‐9 indicated that the PRE‐1 sequence diversified at least 43.2 million years ago. Taken together, the period of time since the separation of the three species, Sus scrofa, Phacochoerus aethiopicus and Tayassu tajacu, is currently estimated to be less than 43.2 million years.
Detection of a new k‐casein variant in milk of Pinzgauer cattle
Authors: Erhardt G.
Published: July 2010

A new k casein variant (k‐CN G) with a frequency of 0.003 was demonstrated in Pinzgauer cattle from Austria and Bavaria, Germany by iso‐electric focusing in polyacrylamide gels and by alkaline polyacrylamide gel electrophoresis. k‐CN G was not present in milk samples of Limpurger, another endangered breed.
Gene frequencies of DRB3.2 locus of Argentine Creole cattle
Authors: Giovambattista G. , Golijow C. D. , Dulout F. N. , Lojo M. M.
Published: July 2010

Gene and genotype frequencies of BoLA‐DRB3 were studied in seven herds of Argentine Creole cattle. Twenty‐one out of thirty previously identified alleles were detected in this breed. The F statistics showed high degree of variability among the studied subpopulations suggesting that subdivision and genetic drift, rather than inbreeding, have been the major factors acting on the observed interpopulation variability. The observed high degree of genetic variation in Argentine Creole cattle could be crucial for the long‐term survival of this population. Maintenance of such polymorphism, as a genetic resource, could be an important issue that will demand attention in future breeding programmes in species under high selective pressures.
Assignment of immune‐related genes to the channel catfish, Ictalurus punctatus, genetic map
Authors: Karsi A. , Wolters W. R. , Waldbieser G. C.
Published: July 2010

Eighteen new genes, adenosine A1 receptor (ADORA1), complement component 4‐beta (C4b), complement component 8‐beta (C8b), chemokine ligand 19 (CCL19), chemokine ligand 21 (CCL21), chemokine ligand 25 (CCL25), chemokine receptor 2 (CCR2), chemokine receptor 5 (CCR5), chemokine receptor 4 (CCR4), chemokine receptor 7 (CCR7), chemokine receptor 9 (CCR9), interleukin 1‐beta (IL1B), integrin II‐beta (ITGB2), novel immune type receptor 2 (NITR2), novel immune type receptor 4 (NITR4), natural killer cell lysin (NKLYSIN), nucleotide excision repair (RAD23B) and tumour necrosis factor‐alpha (TNF), were assigned to the channel catfish (Ictalurus punctatus) genetic linkage map. Polymorphic microsatellite markers were developed for NITR2, NITR4 and RAD23B from short‐tandem repeats in the available sequence. Polymorphic microsatellite markers were developed for the remaining 15 genes by short‐tandem repeat‐anchored primer sequencing of catfish bacterial artificial chromosomes. Two gene clusters (MYOG–NRAMP–ADORA1) and (CCR4–CCR2–CCR5) displayed conservation of synteny between catfish and mammals. Assignment of 18 new genes to the catfish linkage map will further advance integration of genetic and physical maps and comparative mapping between channel catfish and map rich species.
Use of white blood cells and cultured somatic cells in clinical genetic disorders
Authors: Hsia David Yi‐Yung
Published: July 2010

In this review, we have summarized the data showing that about one‐third of all of the known “inborn errors of metabolism” can be detected by white blood cell lysates prepared from 5 to 10 ml of blood, or by cultivated somatic cells grown from either skin biopsy or amniotic fluid obtained by amniocentesis. The ability to simplify the diagnostic procedure in this manner represents an important step forward for the practicing physician.
Abnormalities of human sex chromosomes. V. A unifying concept in relation to the gonadal dysgeneses
Authors: German James
Published: July 2010

Turner's syndrome and variations of Turner's syndrome including “mixed” gonadal dysgcnesis may be viewed as members of a single group of disorders, the gonadal dysgeneses. Seven patients are described whose various clinical and cytogenetic features make them represcntative of the many individuals with one of the gonadal dysgeneses reported from other clinics. The developmental abnormalities which occur, including dysgenetic gonadal tissue, may be traced to the presence during embryonic life of a monosomic (45, X) or a genetically deficient (e.g., 46, XXqi) cell line, whereas a degree of normal gonadal development in some individuals may he traced to the presence also of normal female or male cells.

A unifying explanation for these disorders is presented in terms of a single erroneous chromosomal event occurring after fertilization. Such an event may well be an intrachromosomal rearrangement affecting either an X or a Y, from which may derive a cell line containing a structurally abnormal sex chromosome, a monosomic cell line, or both. The preponderance of affected individuals showing non‐mosaic monosomy (45, X), or the mosaic combination of monosomic cells with cells having a structurally rearranged X or Y chromosome, points to the zygote as the cell in which the disruptive event occurs most often. The less frequent co‐existence of normal diploid cells with abnormal (monosomic or deficient) cells indicates that the disruptive event sometimes occurs in an early postzygotic cell.
A new ceruloplasmin variant, Cp Galveston
Authors: McCombs Michael L. , Bowman Barbara H. , Alperin Jack B.
Published: July 2010

An undescribed fast‐migrating serum ceruloplasmin variant has been detected by acrylamide gel clectrophoresis with a double stain technique for ceruloplasmin and haptoglobin. The serum type migrated identically to ascites fluid ceruloplasmin from one alcoholic cirrhosis patient and three ovarian carcinoma patients.
Sex difference in alcohol metabolism; androgenic steroid as an inducer of kidney alcohol dehydrogenase
Authors: Ohno S. , Stenius C. , Christian L. C.
Published: July 2010

Available genetic evidence on a number of other species shows that alcohol dehydrogenase (ADH: 1.1.1.1) seen in liver and kidney of vertebrates is specified by the same gene locus. Also in the case of man and the mouse, ADH from liver and kidney show identical electrophoretic mobilities. Yet, in development, ADH appears much earlier in liver than in kidney, and a twofold sex difference is seen in the amount of ADH contained in adult kidney of mice and man: Kidney ADH activity of adult females is about one‐fourth and that of adult males is about one‐half of the liver ADH activity.

When castrated adult male and female mice are given 10 mg testosterone, kidney ADH activity rises to about the same level as liver ADH.

On the basis of the above, we postulate that the ADH locus of kidney but not of liver is under the control of a secondary repressive genetic regulatory mechanism. This genetic block on transcriptional and translational activity of the ADH locus is removed by androgenic steroid which serves as an inducer. As long as this block is completely removed, the ADH locus of kidney functions at about the same innate rate as the ADH locus of liver.
Lmmunobiology of human anti‐lgA: a serologic and immunogenetic study of immunization to IgA in transfusion and pregnancy*
Authors: Vyas G. N. , Fudenberg H. H.
Published: July 2010

Human antibodies to human IgA are detected by a sensitive passive hemagglutination assay using IgA paraproteins. The antibodies have a dichotomy of specificities: (1) class‐specific with titers frequently higher than 1:1000 produced by persons lacking IgA, and (2) antibodies with limited specificity (titers less than 1:256) produced by persons with normal IgA when repeatedly transfused. Either type of anti‐IgA belonging to the IgG class was present in 86 per cent of the patients with anaphylactoid and urticarial transfusion reactions, which was consistent with binding of the complement by such antibodies. Anti‐IgA antibodies were detected in 16 per cent of the cases with multiple transfusions received during openheart surgery procedure; they also have a significantly high incidence in the sera of recently delivered women. One fetus had IgM anti‐IgA, probably as a result of immunization to maternal IgA. Serum obtained from a Caucasian woman before and after an anaphylactoid reaction to a blood transfusion contained anti‐IgA antibodies of limited specificity of the IgG class, possibly as a result of isoimmunization in pregnancy. The patient's serum was used as an agglutinator in passive hemagglultination assays on normal serum, which resulted in the definition of Am(l), the first genetically determined allotype of human IgA. On the basis of serologic and immunochemical evidence, Am(1) was localized in the a chains. Based on its gene frequencies and on family studies, Am(l) was established as a mendelian dominant trait. The isoantigen is associated with γA2 subclass but not with the serum γA2 levels. Am(1) is different from the other allotypes of human immunoglobulins, the Gm and Inv types. Am(1) is detectable in salivary IgA; it was not detectable in cord sera. Its polymorphism makes it suitable for studies of population genetics and the molecular biology of IgA.
Gardner's syndrome: Formal genetics and statistical analysis of a large Canadian kindred
Authors: Pierce Edward R. , Weisbord Tim , McKusick Victor A.
Published: July 2010

In a large Canadian kindred 71 members manifested at least one component of the Gardner's syndrome triad. Thirty‐seven manifested polyposis only (including 10 cases of deduced polyposis), ten members manifested soft tissue abnormality only, and one kindred member manifested bone abnormality only. Nineteen kindred members manifested two triad components; 15 had soft tissue abnormality and polyposis, whereas four had polyposis and bone involvement. Four kindred members exhibited the complete triad, while two known to possess the Gardner gene failed to manifest any triad stigmata.

1. Polyposis. Mean age at onset of symptoms in 30 proven cases was 32.2 years, age at polyposis diagnosis in 48 proven cases was 31.4 years, and age at diagnosis of cancer secondary to polyposis in 25 cases was 37.2 years. Fourteen deduced polyposis cases were diagnosed at a mean age of 57.1 years.

2. Hard and soft tissue abnormality. Lack of precise age at onset precluded statistical analysis. The findings described cover the full spectrum of extra‐colonic involvement now associated with Gardner's syndrome.

3. Formal genetics. Males and females were equally affected. The calculated frequency at birth of individuals heterozygous for the Gardner syndrome gene was 1 in 14,025. Kindred members affected with Gardner's syndrome had a relative biological fitness of 82.2 per cent (males 78.9 per cent and females 85.7 per cent). The estimated mutation rate at the Gardner locus was 13 mutations per million loci per generation. In this kindred, the Gardner syndrome gene was 83.9 per cent penetrant. Possible sources of bias entering into the above calculations are discussed.
Discontinuity and quasi‐continuity: Alternative hypotheses of multifactorial inheritance
Authors: Morton N. E. , Yee Shirley , Elston R. C. , Lew Ruth
Published: July 2010

Consequences of three models of multifactorial inheritance are deduced for inbreeding effects and recurrence risks, and methods are developed to test goodness of fit. Applying the computer program DISQUAC to several bodies of data, we find that every one which fits a quasi‐continuous modcl also fits a discontinuous one.

Our results show that it is exceedingly difficult, and may be practically impossible, to infer the genetic basis of traits which do not give regular mendelian ratios. The only consolation is that predicted recurrence risks are esscntially the same for similar models. Thus the two quasi‐continuous models of Falconer and Edwards, which assume cumulative gene action, seem in practice indistinguishable, while the genetic load model can be differentiated only if there is significant dominancc. Useful predictions for genetic counseling may be made from a well‐fitting model even when the mode of inheritance is unclear. In particular, it is shown how to estimate the probability of affection in the next child afterssibs have been born, of whomrwere affected, when there is no birth order effect.
A pedigree with essential myoclonus and genetic spastic oligophrenia*
Authors: Böök J. A. , Sjögren Torsten
Published: July 2010

A pedigree with 7 cases affected with essential myoclonus and 3 cases affected with genetic spastic oligophrenia is reported. These two conditions show independent segregation. Essential myoclonus is apparently a very rare syndrome. Where the few earlier and relevant reports are considered, this syndrome is operationally defined and explained as probably caused by a single major gene difference with clinical manifestation in about 60 per cent of heterozygotes. For counseling purposes the genetic risks for children of one affected parent and for siblings of an affected child appear to be about 30 per cent. The data, however, are still scanty and more exact information about this syndrome is needed.
Antibodies to inherited &‐lipoprotein antigens in the serum of multiply transfused patients
Authors: Berg Kåre , Bearn Alexander G.
Published: July 2010

Sera from 223 multiply transfused patients have been tested for the piesence of prccip:tating antibodies to inherited β‐lipoprotein antigens. Twelve sera containing strong precipitins were found, all but one originated from a group of 85 patients with thalassaemia. The last strong antiserum came from 1 of 19 patients with coagulation defects. No precipitating antibodies were found in the sera from 114 patients with different malignant diseares.

The specificities of 10 of the 12 antisera were compared with one another, as well as with those of some of the previously described lipoprotein antisera. The existence of the spezificity Ld(a) was confirmed by the finding of two antisera containing antibody to this antigen and one possibly demonstrating the product of an allele to Lda. Two antisera contained precipitins not obviously related to the Ld or Ag antibodies. The remaining antisera demonstrated Ag antigens. Thus, the antigens demonstrated by the isoimmune sera of the present seriey apparently belong to 3 groups of related genetic factors.
Unilateral colour vision disturbance. A family study
Authors: Mol E. C. de Vries‐de , Went L. N.
Published: July 2010

A man with a unilateral colour vision defect is reported. The defect of his right eye can best be defined as lying between deuteranopia and extreme deuteranomaly. The left eye was unusual in that it gave a normal Rayleigh equation on the anomaloscope but abnormal readings, classical for red‐green defectives, with the Ishihara test plates. Two cousins and an uncle had bilateral colour vision defects closely resembling the defect from the right eye of the proband. Various explanations were sought for the findings, but ocular pathology, abnormal sex chromosome numbers, and mosaicism with Lyonization as well as somatic back mutation all seem to be unsatisfactory as such.

Three other published cases of a unilateral colour vision defect, two in males and one in a female, are discussed, as is the presence of bilateral colour vision defects in one each of three presumably monozygotic female twin pairs.
Human mitotic and meiotic chromosome damage following in vivo exposure to methotrexate
Authors: Melnyk John , Duffy David M. , Sparkes Robert S.
Published: July 2010

Mitotic chromosome damage was found in bone marrow cells but not in cultured lymphocytes or fibroblasts from a patient receiving methotrexate for treatment of psoriasis. No meiotic chromosome damage was detected in a testicular biopsy taken at the same time. These findings suggest that a full, definitive evaluation of human chromosome damage following drug exposure may require examination of several different tissues.
Hypotonic KCl: An improved method of processing human testicular tissue for meiotic chromosomes
Authors: Luciani J. M. , Devictor‐Vuillet M. , Stahl A.
Published: July 2010

A suspension was made in isotonic Hanks solution of the contents of the tubules from a human testicular biopsy specimen. The germinal cells were sedimented by centrifugation and the supernatant was discarded. The cells were resuspended in hypotonic (0.42%) potassium chloride, left at 37oC for 20 minutes, then centrifuged again, and fixed in a mixture of 2 parts absolute methanol and 1 part glacial acetic acid. Air‐dried preparations were made from the final suspension and stained in Giemsa solution. This method is suitable for all the stages of male meiosis. Its main advantage lies in the property of KCl which avoids cell clumps and unpredictable failures presumably related to the formation of a coagulum in the cellular suspension. KCl has been used advantageously to prepare meiotic cells with improved spreading and staining of the chromosomes.
Amino acid naphthylamidase isozymes in cancer cells and normal cells
Authors: Beckman L. , Lundgren E. , Rydelius P. A.
Published: July 2010

Two different types of amino acid naphthylamidase isozymes, called A and B, are found in human cells cultured in vitro as well as in different human organs. The A isozyme is typical of cancer cell lines but is generally absent in fibroblastic cell strains where the B type isozymes are strongly represented. An analogous increase of the A isozyme was found in extracts of cells from lung and liver metastases of various carcinomas and in extracts of cells from primary carcinomas compared to normal cells. The results indicate that cancer cells differ from normal cells in the proportions of A and B amino acid naphthylamidase isozymes.
Biochemical and immunological characterization of ceruloplasmin genetic variants
Authors: Shokeir M. H. K.
Published: July 2010

The results of biochemical and immunological characterization of five electrophorctic variants of human serum ceruloplasmin in Negroes are described. The variants were found to differ in the surface charge of the protein moeities of their molecules. No difference in their molecular weights could, however, be ascertained. The specific activities of the variants were strictly similar. Compared to the normal form CpB, CpA is more resistant and Cp Bpt is more susceptible to inhibition by either cyanide or azide of their oxidase activity while CpNH and CpA appear to resemble CpB in this regard. Citrate exerts uniform inhibition on all variants.

Based on the differences in susceptibility to inhibition, the relative concentration of CpA to CpB protein in the CpAB heterozygote has been estimated to be 2:1. This may indicate that alleles at the ceruloplasmin locus (Cp) determine ceruloplasmin synthesis with different efficiencies. However, except for the Cp Bpt variant, the total level of ceruloplasmin protein in the serum appears to be regulated by a mechanism independent of the Cp phenotype and extrinsic to its structural genes.

The objectives of these studies have been (A) to establish the distinctiveness of ceruloplasmin variants, (B) to provide means of identification and definition of new variants which may not differ electrophoretically from each other or from the variants already described, e.g. through differences in their inhibition profile, (C) to gather and assemble the necessary information to construct a model for control of quantitative expression of ceruloplasmin protein.
Meiosis and spermatogenesis in two postpuberal males with Down's syndrome: 47, XY, G+
Authors: Kjessler Berndt , Chapelle Albert de la
Published: July 2010

Meiotic chromosomes and testicular histology were analysed in two postpuberal males with Down's syndrome. Both patients had the karyotype 47,XY,G+ without evidence of mosaicism. Complete spermatogenesis was demonstrated in both patients with normal or near normal testicular morphology. Meiosis was regular with the presence of two cytologically distinct classes of primary spermatocytes at diakinesis and metaphase I. Cells with 23 and 24 meiotic chromosome bodies were recognized in both patients. Trivalents could be neither identified nor excluded. Primary spermatocytes with 23 chromosome elements may either contain the supernumerary G‐chromosome in a hidden, e.g. trivalent, state or they may be truly normal due to previous elimination of the extra chromosome. In cells with 24 chromosomes a univalent G‐chromosome was tentatively identified.

The clinically observed subfertility or sterility in mongoloid males is probably explained by a multitude of contributory factors, chief among which are an impaired postmeiotic maturation process and the general unfitness consistent with Down's syndrome.
Achondroplasia and thanatophoric dwarfism in the newborn
Authors: Harris R. , Patton J. T.
Published: July 2010

Out of a total of 64,000 births in St. Mary's Hospital, Manchester, 17 were originally diagnosed as having achondroplasia. When the diagnosis was reviewed, 10 of these infants proved to be thanatophoric dwarfs, 3 had inherited achondroplasia, 1 was apparently a mutant achondroplastic, while 3 others had other forms of non‐achondroplastic chondrodystrophy. All 10 thanatophoric dwarfs but only one other child in the series were still‐born. It is concluded that both the birth rate and the perinatal mortality rate for achondroplasia are much lower than was previously believed.

The clinical features of 10 infants with thanatophoric dwarfism in this series are reviewed and a high incidence of associated defects noted. There was an excess of affected males and one pair of affected sibs occurred suggesting autosomal recessive inheritance, with sex‐limitation or early loss of female embryos, in thanatophoric dwarfism.

The implications of this diagnostic heterogeneity are important in counselling parents of apparently achondroplastic infants.

The necessity for postulating a high mutation rate to the achondroplasia gene depended upon the assumption that about 80% of such infants died. The results reported here have suggested that most of this mortality is accounted for by thanatophoric dwarfs and consequently it is no longer necessary to postulate a mutation rate greater than 1:100,000 at most in achondroplasia.
Male and female sex determination in hair roots
Authors: Francois J. , Leuven M. Th. Matton‐Van , Acosta J.
Published: July 2010

The authors report that observation of atebrin‐stained human hair roots under the fluorescent microscope is an easy, quick, and efficient method for accurate counting of Barr bodies in females, Y bodies in males, and, simultaneously, both types of bodies in Klinefelter patients.
Dominant mode of inheritance in atrial septal defect
Authors: Zetterqvist Per , Turesson Ingemar , Johansson Bengt W. , Laurell Stephan , Ohlsson Nils‐Magnus
Published: July 2010

Two kindreds showing an accumulation of secundum‐type atrial septal defects have been traced back to common ancestors in the 18th century. The distribution of affected individuals in the combined pedigree satisfies the criteria of a dominant mode of inheritance. The diagnosis is considered certain in 16 cases (verified at operation in nine, at autopsy in one, and by heart catheterization in two) and more or less strongly suggested in four. Evidence from this and some additional reports gives support to the hypothesis that in exceptional cases atrial septal defect may be inherited as an autosomal dominant character showing high or even complete penetrance and little variation in expressivity. This does not contradict the generally accepted view that, in most cases, atrial septal defect as well as other cardiovascular malformations must be due to multifactorial mechanisms.
Autosomal dominant inheritance in Larsen's syndrome
Authors: Harris R. , Cullen C. H.
Published: July 2010

Larsen's syndrome inclucling bilateral dislocation of the knees, pes cavus, cylindrically shaped fingers, and a characteristic facial appearance is described in a mother and daughter. The mother's father may also have had some of the features of the syndrome.

Previous reports of cases of Larsen's syndrome have involved only sporadic cases or affected siblings. It seemed likely that the syndrome was inherited as an autosomal dominant trait in this family.
Amino acid composition of serum high density lipoprotein in patients with familial lecithin:cholesterol acyltransferase deficiency
Authors: Torsvik Harald , Boman Helge
Published: July 2010

The amino acid composition of serum high density lipoprotein (HDL) from two patients with LCAT deficiency has been investigated. HDL from the patients was composed of two fractions, one of high molecular weight (peak 1) and one of relatively low molecular weight (peak II). The amino acid composition of peak I was close lo that of normal HDL except for lower levels of serine and glutamic acid and a higher level of isoleucine. In peak II increased amounts of histicline and arginine and decreased amounts of threonine, serine, proline, methionine, isoleucine, tyrosine, phenylalanine, and cysteine were found.
The adducted thumbs syndrome
Authors: Christian Joe C. , Andrews P. A. , Conneally P. M. , Muller Jans
Published: July 2010

Four children with similar anomalies inclucling cleft palate, arthrogryposis, craniostenosis, swallowing difficulties, and microcephaly are presented. Three of the four are Amish and trace back to a single pair of common ancestors. Neuropathological studies of one affected infant, who died at 18 days of age, revealed dysmyelination with excessive myelin‐dependent gliosis, myelin solubilization, and transient formation of phospholipid‐containing plaques on the surface of the central nervous system during formalin fixation.

All four affected individuals had thumbs flexed and adducted across the palms, leacling to the suggestion that “Adducted Thumbs Syndrome” be used to identify this autosomal recessive disease until the basic genetic defect is further characterized.
Cleidocranial dysostosis
Authors: Srivastava K. K. , Pai R. A. , Kolbhandari M. P. , Kant K.
Published: July 2010

A case report is given of a patient with cleidocranial dysostosis, his karyotype displaying a prominent secondary constriction in a 13–15 chromosome.
Congenitally malformed female infant with hairy pinnae
Authors: Chaurasia B. D. , Goswami H. K.
Published: July 2010

As far as is known, hairy ear rims have not been recorded at birth in a female infant in association with skin malformations corresponcling to icthyosis follicularis. The present report concerns a three‐day‐old child admitted to the Ophthalmic Ward, J. A. Group of Hospitals, Gwalior. The relatives wanted removal of bulbous pedunculated tags of skin attached to the outer canthus of her eyes. On examination, it appeared possible that the child exhibits a new genetic syndrome comprising ophthalmic, dermatologic, and anatomical disorders.
Studies on inherited antigenic variation of human serum ß‐lipoprotein by passive hemagglutination
Authors: Boman Helge , Berg Kåre , Stavem Per
Published: July 2010

Sera from 199 multiply transfused patients were tested for antibodies to inherited ^‐lipoprotein antigens by the passive hemagglutination method. Hemagglutinating antibodies were found in 17 sera, whereas 6 gave precipitin lines in double diffusion tests in agar gel. In addition to well established specificities, some specificities not earlier encountered in this laboratory were observed.
Accumulation of different congenital heart defects in one pedigree
Authors: Zetterqvist Per
Published: July 2010

In one kindred nine cases of congenital heart defect of several different types were diagnosed. Confirmation of the diagnoses was achieved at surgery in five cases and at post‐mortem examination in two. One pair of affected sibs born to healthy parents was found in each of three generations. Transmission from parent to child occurred once. The defects might possibly be due to a major gene exerting its effect in the heterozygote condition. This would imply a highly reduced penetrance and extraordinarily wide variation in expressivity.
The ENCU scoring system
Authors: Chase Gary A. , Murphy Edmond A. , Bolling David R.
Published: July 2010

A general rule is derived for calculating the conditional probability of a pedigree given that the consultand is a carrier. The method is designated the ENCU system. It is a generalization to accommodate all unilocal systems of inheritance with arbitrary penetrance operating independently in relatives of the ENSU system previously described (Murphy 1970a). The amount of information provided by the normal phenotypes of a person and his descendants is expressed in units of equivalent genotypically normal offspring (ENCUs). The method is applied to a typical genetic counseling problem, and it is shown that a considerable reduction in the quoted risk is obtained because the ENCU system takes into account the normal phenotypes of potential carriers of an incompletely penetrant gene.
Evidence for autosomal recessive inheritance of costovertebral dysplasia
Authors: Cantú J. M. , Urrusti J. , Rosales G. , Rojas A.
Published: July 2010

Hereditary costovertebral dysplasia was ascertained in five children of two related sibships in a pattern consistent with autosomal recessive inheritance. Clinical and radiological studies showed abnormalities limited to the axial skeleton and ribs. Genetic heterogeneity, evident from the fact that an indistinguishable disorder has been reported as dominant, is important in relation to genetic counseling. A phenocopy caused by teratologic agents should also be considered, since the same malformation has been produced in experimental mammals.
Glucose‐6‐phosphate dehydrogenase polymorphism: A valuable tool to study tumor origin
Authors: Smith James W. , Townsend Duane E. , Sparkes Robert S.
Published: July 2010

Genetic electrophoretic variants of G ‐ 6 ‐ PD were studied in tumor tissue from heterozygous Negro women to determine whether their malignancies were of unicellular or multicellular origin. Adenocarcinoma of the breast appeared to be multicellular in origin in two cases while a single case of Bowen's disease of the vulva was of apparent unicellular origin. These findings and others from the literature indicate that the G‐6‐PD polymorphism is a valuable tool to evaluate the unicellular versus multicellular origin of human tumors.
Studies of human chromosomes by DNA‐binding fluorochromes
Authors: Hagen Carl Birger van der , Lie Tove , Berg Kåre
Published: July 2010

The D group chromosomes can readily be distinguished by fluorescent labelling of the chromosomes with quinacrine mustard. D/D translocation carriers may produce offspring with unbalanced chromosome sets. To give rational genetic counselling, it is necessary to know which D chromosomes are involved in the translocation. The results of fluorescence distribution studies of the chromosomes from a female with the karyotype 45,.XX,.D‐,.D‐,.t(DqDa)+ are presented.
Congenital chloride diarrhea, an autosomal recessive disease
Authors: Norio R. , Perheentupa J. , Launiala K. , Hailman N.
Published: July 2010

Congenital chloride diarrhea (CCD) is a persistent, life‐thieatening watery diarrhea with a uniquely high chloride concentration of stool water. It is manifested prenatally hy hydramnios. Evidence was sought to substantiate its genetic transmission as an autosomal recessive trait.

Genetic data on 12 families reported from outside Finland and 11 evident and 3 probable families in Finland are discussed. The occurrence was familial in at least 5 sibships. No sex‐specificity was found. The corrected proportion of affected siblings was 0.18 ‐0.29 (extreme possibilities of ascertainment). The parental marriage was consanguineous in 3 evident and 3 probable families, and 17 out of 27 known parents were shown to be consanguineous with 1 ‐8 other CCD parents. The ancestors were unevenly distributed geographically, originating mainly from the eastern parts of Finland. These findings, taken with the peculiar population structure of Finland, constitute distinct evidence for the autosomal recessive mode of transmission of CCD.

The name congenital chloride diarrhea is advocated.
Similarity in amino acid composition between human serum lipoproteins and histocompatibility antigens on cell membranes
Authors: Berg Kåre
Published: July 2010

Compositional relatedness appears to exist between human histocompatibility antigens and the protein part of Lp(a) lipoprotein and low density lipoprotein of human serum. Evidence for this emerged in a comparative analysis of amino acid composition by the statistical method of Metzger et al. The difference indices obtained were considerably lower than those reported previously from comparisons of apparently unrelated proteins and also lower than those from control analyses conducted in the present study.

The Lp(a) lipoprotein appeared to be closely related also to murine H‐2 antigen.

The results support the concept of a relationship between human serum lipoproteins and histocompatibility antigens on cell membranes.
Spinal muscular atrophy type II
Authors: Fried K. , Emery A. E. H.
Published: July 2010

A form of spinal muscular atrophy (S. M. A.) intermediate in severity between the infantile (Werd‐nig‐Hoffmann or type I) and juvenile (Kugelberg‐Welander or type III) forms of this disease has been defined. This is referred to as intermediate or type II S. M. A. and is characterized by proximal muscle weakness with onset usually between 3 and 15 months and survival beyond 4 years and usually into adolescence or later. The finclings in 14 patients with this type of S. M. A. are described. It seems possible that it is inherited as an autosomal recessive trail.
Investigations on the nature of ceruloplasmin deficiency in the newborn
Authors: Shokeir M. H. K.
Published: July 2010

Enzymatic and immunoassaies of serum ceruloplasmin were undertaken on serum samples from 100 newborn infants, their mothers, and 100 unrelated women who served as controls. The results indicate that the remarkably low levels of ceruloplasmin oxidase activity observed in the serum of neonates are not due to deficient ceruloplasmin protein synthesis but to defective copper incorporation in the synthesized protein, resulting in excess apoceruloplasmin concentration. Furthermore, serum copper studies involving both total and free copper corroborated this conclusion.
Pre‐beta‐lipoproteins in healthy persons
Authors: Wille Leif E.
Published: July 2010

Agarose gel electrophoresis has been used in the study of serum lipoproteins in 224 presumably healthy subjects, mainly men. The application of the method for scanning and determination of serum lipoproteins has been evaluated. Pre‐beta‐lipoprotein was detected in all studied persons and made up from 10–60% of total lipoproteins. More than 40% pre‐beta‐lipoprotein in serum is suggested for the diagnosis of type IV hyperlipoproteinemia. Clinical conditions related to elevation of the pre‐beta‐lipoprotein in serum have been studied by automatic data processing using multiple regression analysis.
Choroideremia and the Xg locus: Another look for linkage
Authors: Bell Alex G. , McCulloch J. C.
Published: July 2010

Nineteen Xg blood group determinations were performed on members of a large family in which the X‐linked disease choroideremia is segregating. Six of these determinations were informative as to linkage between the Xg and choroideremia loci. Three recombination events out of a possible six support an earlier suggestion that the two loci are only loosely linked.
Demonstration of an atypical pre‐ ß‐lipoprotein in human serum
Authors: Wille Leif E. , Phillips Gerald B.
Published: July 2010

An atypical pre‐β‐lipoprotein of human serum has been detected by agarose gel electrophoresis in four patients, three of whom were siblings. This lipoprotein differed from the pre‐β lipoprotein previously observed with this technique by sedimenting on ultracentrifugation at density 1.006.
See‐saw winking in a familial oral‐facial‐digital syndrome
Authors: Sugarman Gerald I. , Katakia Madhu , Menkes John
Published: July 2010

This paper reports an unusual disturbance of blinking and of eye movements in a 3‐year‐old child with a previously unreported syndrome of malformation and mental retardation. The eye abnormalities consisted of hypertelorism, antimongoloid slanting of the palpebral fissures, bilateral ex‐otropia, and ceaseless winking of the eyelids described as “sec‐saw winking”. The syndrome consisted of the eye abnormalities, lobulated hamartomatous tongue, dental abnormalities, bifid uvula with a normal palate, postaxial hexadactyly of the hands and feet, pectus excavatum, short sternum, kyphosis, and profound motor‐mental retardation. A sister was similarly affected, without the described abnormal eye movements.

This syndrome differs from the oral‐facial‐digital syndromes I and II in the absence of oral frenula and clefts and hypoplasia of the alae nasi and in the type of Polydactyly, clinodactyly, and syndactyly.
Heart malformations in two brothers with identical chromosome aberrations (46, XY, G‐ ? F+)
Authors: Kaijser Kurt
Published: July 2010

A family consisting of healthy parents and three sons was studied. The second son is normal; the oldest and the youngest son showed nearly the same type of heart failure: fibrotic valves and enormous pulmonary stenosis at the ostium, enlargement of the right ventricle of the heart, and some other abnormalities of the vessels. The boys were born at an interval of 4 years. The prominent nasal bridge, low‐set ears, and the receding mandible gave their faces a peculiar appearance. The karyotype of both children showed the lack of a chromosome of the G group and the addition of an “extra” chromosome of the size and appearance of a chromosome of the F group, or 46, XY, G‐, ? F +. The first of the boys died at 3 weeks of age, the second at 2 months of age. The chromosomes were examined by means of fluorescence analysis.
The relation of type of initial symptoms and line of transmission to ages at onset and death in Huntington's disease
Authors: Brackenridge C. J.
Published: July 2010

To determine whether the age at onset and age at death were related to the type of initial symptoms of Huntington's disease, analyses of variance with respect to (A) order of appearance of neurological and psychiatric symptoms, (B) type of muscular disorder (chorea or rigidity), (C) sex of affcctcd subject, (D) sex of transmitting parent, and (E) sex of transmitting grandparent were calculated. Agc at onset and age at death were each significantly affected by order of symptoms, neurological sign, sex of subject, and sex of affected parent. The duration of illness depended only on the order of neurological and psychiatric symptoms.

Fathcrs exceeded mothers as transmitting parents of sibships with one or more affected subjects. The proportions of the four parental‐grandparental lines of transmission differed significantly among subjects grouped according to type of first symptoms but not according to muscular signs. The ratio of choreic to rigid cases varied significantly with the order of symptoms and sex of the subject.

The earlier ages at onset and death of subjects with Westphal (rigid‐hypokinetic) symptoms than those with typical choreic movements confirm the validity of distinguishing between these variants of the disorder.
Another variant in the C 3 system
Authors: Teisberg Pek
Published: July 2010

A variant band in the C 3 system has been found in four members of onc Norwcgian family. By direct comparison the band was found lo migrate anodally to all earlier describcd C 3 bands on high voltage agarose gel electrophoresis. It is highly probable that the band represents a new allele at the C 3 locus, C 3F1.2.

The C 3 content of all variant‐containing sera of the family was found to be normal.
Discriminating between different modes of inheritance in genetic disease
Authors: Smith Charles
Published: July 2010

A genetics program library (Morton 1969a) was used to study the problem of discrimination between different modes of inheritance in genetic disease. Data were generated on familial frequencies and on the distribution of affected sibships by a two‐allele single‐locus model and the goodness of fit was tested hy a multifactorial model to the data and vice versa.

The singlelocus model is very flexible and can f i t multifactonal data well except when the frequency is very low and the heritability is high. The multifactorial model gives a poor fit in simple Mendelian‐like situations, but the fit improves as the parameters of the singlelocus model become less Mendelian. In general it will be difficult to discriminate between models of inheritance with the types of data and forms of analyses studied. Even segregation analysis does not seem critical in discrimination, but ra!her serves to confirm the results derived from the familial frequency data. In practice, with sampling errors, ascertainment biases, mortality, variable onset age, heterogeneity, and many other complicating factors, discrimination between different modes of inheritance is likely to be very difficult indeed.
Month of birth and gametopathy
Authors: H.Jongbloet Piet
Published: July 2010

Monthly variations in the incidence of births of 441 patients with Down's syndrome, 317 patients with Klinefelter's syndrome, and 126 patients with Turner's syndrome were studied. These three chromosomal aberrations showed almost identical seasonal variation with two maxima, a greater maximum in the period February to May and a smaller one in September. These fluctuations synchronous with those of the “normal” birth curve, but have a greater amplitude. To explain the variations, the following hypothesis is proposed: Seasonal fluctuations in the “normal” conception curve are caused by two basic oestric patterns, of which a phylogenetically younger (polyoestrus) is superimposed upon the phylogenetically older one (mono‐ or dioestrus). The latter is influenced by climatologic factors. The seasonal fluctuations in the “normal” conception curve can be explained by alternating periods of normal, i.e. ovulatory, and of disturbed, i.e. anovulatory, cycles. The increase of “pathological conceptions” during spring and autumn and the crease during winter and summer are caused by interference of the two basic oestric patterns. Such interference might retard the preovulatory or intrafollicular ripening of the egg cell, resulting in overripeness ovopathy. In addition, spermatopathy, too, could be influenced by climatalogic factors. Birth curves of parents of patients with Down's syndrome may suggest a constitutional factor, predisposing to “pathologic conceptions”.