bluuebunny/crossref_metadata_2025_split huggingface dataset:
Extension of human acid α‐glucosidase polymorphism by isoelectric focusing in polyacrylamide gel
Authors: NICKEL B. E. , McALPINE P. J. 
Published: September 2007

SUMMARY1. A method to analyse acid α‐glucosidase (GAA) activity in human tissues by flatbed polyacrylamide gel isoelectric focusing has been devised.2. With this method the GAA polymorphism has been extended from three to six commonly occurring phenotypes.3. After isoelectric focusing the GAA2 isozyme migrated cathodally with respect to the GAA1 isozyme, whereas with the previous starch‐gel electrophoresis method their relative positions were reversed.4. The six common phenotypes are generated by three alleles, GAA*1, GAA*2 and GAA*4 with frequencies of 0.91, 0.03 and 0.06, respectively.
Assignment of the gene for cytosolic alanine aminotransferase (AAT1) to human chromosome 8
Authors: ASTRIN K. H. , ARREDONDO‐VEGA F. X. , DESNICK R. J. , SMITH M. 
Published: September 2007

SUMMARYThe segregation of human cytosolic alanine aminotransferase (AAT1) and the individual human chromosomes has been studied in 27 secondary and tertiary rat hepatoma‐human (liver) fibroblast hybrids. The staining solution used to visualize AAT activity on starch gels was specific for AAT since it was visualized only when all components of the stain were present. The locus for human AAT1 has been assigned to chromosome 8.
Regulation of expression of liver‐specific enzymes: II. Activation and chromosomal localization of soluble glutamate‐pyruvate transaminase
Authors: KIELTY C. M. , POVEY S. , HOPKINSON D. A. 
Published: September 2007

SUMMARY1. The expression of soluble GPT (E.C. 2. 6. 1. 2) was analysed in seventeen independent rat hepatoma/human somatic cell hybrids and in forty‐one subclones derived from two of these hybrids.2. As judged by electrophoretic mobility, twelve hybrid clones expressed rat GPT activity only and three expressed strong rat and weak human GPT activity but no heteromeric isozymes. In the remaining two hybrids, only human GPT was demonstrable.3. The segregation of GPT and marker enzymes in the primary hybrid cells and the subclones suggests that the human structural GPT locus is on chromosome 8.4. The re‐expression of rat GPT in segregating subclones derived from two primary hybrids which had extinguished this function, could not be correlated with presence or absence of any particular human chromosome(s).
Design considerations in the estimation of intraclass correlation
Authors: DONNER A. , KOVAL J. J. 
Published: September 2007

SUMMARYThe design of family studies to estimate the value of an intraclass correlation coefficient p is considered when ni individuals are to be selected from each of k families, i = 1, 2, …, k. In particular, the accuracy of a balanced design (ni=n, i = 1,2,…,k) for estimating p is compared with the accuracy of an unbalanced ‘natural’ design, in which the ni are sampled at random from family size distributions that tend to occur in practice. It is found for two different estimators of p that the balanced design is usually preferable, but only to a small degree if the number of families sampled is greater than 50.
Inference on inheritance of disease using repetitions of HLA haplotypes in affected siblings
Authors: GREEN J. R. , LOW HENG CHIN , WOODROW J. C. 
Published: September 2007

SummaryA new analysis of family data concerning the repetitions of HLA haplotypes among affected siblings is presented to provide a method to determine the mechanism of inheritance of some diseases. The analysis differs from earlier ones in two major respects: sibships containing more than two affected sibs are included in the analysis, and due account is taken of the number of unaffected sibs in each sibship.Data relating to juvenile diabetes are analysed, and a recessive mode of inheritance of this disease is confirmed.
Birth weight, placental weight and gestation time in relation to natural selection in Thailand
Authors: PROMBOON S. , MI M. P. , CHATURACHINDA K. 
Published: September 2007

SummaryBirth weight, placental weight and gestation time of 26258 single births at Ramathibodi Hospital during 1973–7 were studied in relation to natural selection by fitting quadratic function to natural log of survivors‐to‐nonsurvivors ratios. The survival criterion was 7 days after delivery. The estimated optimal values of birth weight and placental weight were 0.62 and 0.90 standard deviations, respectively, above the corresponding arithmetic means. Selection on birth weight and placental weight was asymmetrical about the optima, being more intense among the lower than the higher values. On the other hand, selection on gestation time seemed most stabilized with the optimum almost coinciding with the mean.
A general model for disease‐marker association
Authors: RISCH N. 
Published: September 2007

SummaryA general model for analysing disease‐marker associations from a random sample of patients and controls is given, assuming an arbitrary number of marker and disease susceptibility alleles. A method for testing the goodness‐of‐fit of various disease susceptibility models to the observed distribution of genotypes at the marker locus in patient and control samples is given. The method is demonstrated using a recently published data set on type I diabetes.
Confirmation that the Type I collagen gene on chromosome 17 is COL1A1 (α1(I)), using a human genomic probe
Authors: Solomon E. , Hiorns L. , Sheer D. , Rowe D. 
Published: September 2007

SummaryA cloned 15 kb genomic fragment from the human α1 (I) collagen gene (COL1A1) has been used as a probe on restriction digests of DNA from human‐mouse somatic cell hybrids. Positive results on hybrids containing chromosome 17 as their only karyotypically visible human material confirm the assignment of this gene to chromosome 17. Hybrids which contain fragments of chromosome 17 are used to confirm the localization to 17q21‐qter.
Advanced grandmaternal age on the mother's side – a risk of giving rise to trisomy 21
Authors: Aagesen L. , Grinsted J. , Mikkelsen M. 
Published: September 2007

SummaryThe age distribution of maternal grandmothers of children with Down syndrome was compared with paternal grandparents of the same group and with grandparents of healthy children (controls). The significant advanced maternal grandmaternal age was found in cases of Down syndrome caused by first meiotic error in the maternal oogenesis. The advanced maternal grandmaternal age was found independent of maternal age. No differences were found between the ages of grandfathers of Down syndrome and of controls.
Complete hydatidiform moles combine maternal mitochondria with a paternal nuclear genome
Authors: EDWARDS Y. H. , JEREMIAH S. J. , McMILLAN S. L. , POVEY S. , FISHER R. A. , LAWLER S. D. 
Published: September 2007

SummaryThe parental origin of mitochondria in hydatidiform moles has been investigated by analysis of genetic variants of mtDNA restriction enzyme patterns. In six complete moles the mtDNA was found to be maternal in origin, with no contribution from the sperm mitochondria, while the nuclear genome was shown to be exclusively paternal in five cases. The occurrence of mtDNA variation in the healthy population was investigated using white blood cells and placentae, and the most common variation occurred at the Ava II restriction sites. The variants exhibited by molar mtDNA were the same as those found in material from healthy individuals.
Biochemical heterozygosity as a predictor of developmental homeostasis in man
Authors: LIVSHITS G. , KOBYLIANSKY E. 
Published: September 2007

SummaryThe relationships between the variability of 48 morphological traits and the heterozygosity of four blood group loci were studied in 200 Israeli Jewish males of Eastern European origin aged 18–22 years. A definite correlation was observed between the level of heterozygosity and the variability of 17 traits and two indices. Of the latter traits only 10 were chosen for further analysis. Principal component analysis showed that seven of these traits were independent. For six of them, the frequency of modal individuals (average ± 0·67 s.d.) in the tetraheterozygous group was the highest, diminishing proportionally with decreasing heterozygosity levels. The degree of heterozygosity also had a significant negative correlation with the coefficient of variation of the morphological characters and was positively associated with the kurtosis values. Only the variability of one of 10 traits showed an opposite trend and a correlation with biochemical homozygosity. The results are discussed in terms of developmental homeostasis.
The estimation of inbreeding from isonymy: relationship to the average inbreeding coefficient
Authors: TAY J. S. H. , YIP W. C. L. 
Published: September 2007

SummaryThe inbreeding coefficient estimated by the isonymy method is often much larger than the average inbreeding coefficient (FD). One reason commonly stated is that the surnames are polyphyletic in origin in such cases. The purpose of this paper is to examine the relationship between the inbreeding calculated from isonymy and the average inbreeding coefficient. It was found that when the level of inbreeding is low, especially when the random isonymy (Pr) is much larger than FD, or when the number of surnames is small (which results in a larger value of Pr), isonymy tends to grossly overestimate FD. A small number of surnames per se (not necessarily due to polyphyletic origin of surnames) will be likely to result in an unduly high estimate of inbreeding. The equations established are illustrated by numerical examples.
Genetic heterogeneity of the B subunit of coagulation factor XIII: resolution of type 2
Authors: BOARD P. G. 
Published: September 2007

SummaryAn apparent discrepancy in phenotyping the genetic polymorphism at the FXIII B locus by electrophoresis or isoelectric focusing has been investigated. The data indicate that the product of the type 2 allele, which can be detected by agarose electrophoresis, is not resolved from the product of the type 1 allele by isoelectric focusing. The understanding of this problem has previously been confused by the absence or very low frequency of the type 2 allele in Japanese populations studied by isoelectric focusing and electrophoresis.An alternative enzyme‐linked immunoblotting technique is described which substantially improves the method for phenotyping products of the FXIII B locus after electrophoresis.
A revised map of chromosome 1
Authors: SHERMAN S. L. , KING J. , ROBSON E. B. , YEE S. 
Published: September 2007

SummaryThe genetic map of chromosome 1 reported by Keats, Morton & Rao (1981) has been updated using recent recombination data and regional assignments from the Galton Laboratory (King, 1982a) and from the current literature. A maximum likelihood mapping technique using pairwise recombination data without a chiasma map was developed, based on the principles of Rao et al. (1979) and Keats et al. (1981). The development of this new method was found to be necessary when inconsistencies were encountered using a method which combines recombination data and physical data through the chiasma map. These inconsistencies could be due to appreciable chiasma movement, incorrect physical assignments or technical and biological variation in lod scores.
Approximate linkage equilibrium between two polymorphic sites within the gene for human complement component 3
Authors: DONALD J. A. , BALL S. P. 
Published: September 2007

SummaryHaplotypes have been determined for alleles at two separate polymorphic sites within the human structural gene for complement component 3, identified as a protein polymorphism and as a restriction fragment length polymorphism by hybridization using a cloned gene probe. No evidence was found for appreciable disequilibrium between alleles at these sites, despite their very close linkage.
A direct cytogenetic technique for assessing the rate of first meiotic non‐disjunction in the human male by the analysis of cells at metaphase II
Authors: LAURIE D. A. , FIRKETT C. L. , HULTÉN M. A. 
Published: September 2007

SummaryThe successful application of a triple staining technique incorporating quinacrine mustard fluorescence, lacto‐propionic orcein staining and C‐banding to metaphase II cells in the human male is described. This procedure overcomes the major technical difficulties associated with the analysis of these cells, enables unambiguous chromosome counts to be made and allows the majority of cells to be karyotyped. Preliminary results on two hundred cells from six men with apparently normal karyotypes are presented.
Chiasma derived genetic lengths and recombination fractions: a 46, XY, t(9; 10) (p22; q24) reciprocal translocation
Authors: LAURIE D. A. , PALMER R. W. , HULTÉN M. A. 
Published: September 2007

SummaryChiasma distribution data on chromosomes 1, 2 and 9 from a reciprocal translocation carrier with a 46, XY, t(9; 10) (p22; q24) karyotype were used to calculate genetic distances and recombination fractions for chromosome segments corresponding to the major mitotic bands and for intervals between the centromeres and points at 10% intervals along the chromosome arms. These values were compared with those from control males with normal karyotypes. The translocation showed a marked increase in crossing‐over in one specific region of chromosome 9 and, in addition, there was evidence of interchromosomal effects in chromosomes 1 and 2.
The location of the major bands on chromosome 1 at diakinesis in the human male and the relationship between banding pattern and chiasma localization
Authors: LAURIE D. A. , HULTÉN M. A. , PALMER R. W. 
Published: September 2007

SummaryQ‐banded chromosome 1 bivalents from six human males were measured in order to determine the locations of the major band borders. Chiasma position was also recorded in these bivalents in order to determine whether chiasmata preferentially occurred in Q‐bright regions, Q‐dark regions or in the interfaces between. The results indicated that the locations of the major bands of chromosome 1 were very similar at diakinesis and at mitotic prometaphase and that chiasma distribution was not governed by the banding pattern of the chromosome.
The affected sib method. IV. Sib trios
Authors: PAYAMI H. , THOMSON G. , MOTRO U. , LOUIS E. J. , HUDES E. 
Published: September 2007

SummaryThe classical sib pair method uses the expected and observed HLA (human leukocyte antigen) haplotype sharing distribution in sib pairs, who are affected with an HLA associated disease, to make inferences about the inheritance of the disease. In this paper we present the expected HLA haplotype sharing distributions in affected sib trios, and sib pairs, from families with three or more affected sibs. The underlying model for both distributions, as for the classical sib pair method, is that disease predisposition is determined by a single allele at an HLA‐linked locus. The sib trio tests of hypotheses (additive and recessive), and disease parameter estimates (additive, recessive and intermediate), can be compared with those obtained from the classical sib pair analysis. In addition, the sib trio data allow parameter estimation for a general disease model to be made, if the data fall within the bounds of the expectation. This study forms the basis of later investigations which show that haplotype sharing of affected sib trios for two susceptibility alleles (negative complementation) model, which appears appropriate for insulin dependent diabetes mellitus (IDDM), moves outside the bound of the single susceptibility expectations outlined here, whereas haplotype sharing values for sib pairs are bound by the single susceptibility allele expectations. Available Caucasian IDDM data have been analysed. The results support genetic heterogeneity of IDDM.
Chromosomal assignment of seven human genomic DNA sequences associated with restriction fragment length polymorphisms
Authors: SPURR N. K. , FEDER J. , BODMER W. F. , GOODFELLOW P. N. , SOLOMON E. , CAVALLI‐SRORZA L. L. 
Published: September 2007

SummarySeven phage clones containing human sequeces were picked at random from at human genomic library cloned in Charon 4A. The clones are devoid of repetitive sequences and can be used to recognize restriction fragment length polymorphisms (Feder et al. 1985. The chromosomal locations of the sequences defined by the seven clones have been determined by Southern blotting and DNA hybridization to DNA from human‐mouse somatic cell hybrids. The chromosomal assignment of these sequence should increase their value as genetic markers in family studies.
Different break‐points in Philadelphia chromosome variant translocation and in constitutional and sporadic translocations
Authors: MASERATI E. , PASQUALI F. , PERETTI D. 
Published: September 2007

SummaryThree different samples of translocations were considered in an attempt to identify those chromosomal bands preferentially involved in variant Philadelphia chromosome (PH1) translocations, and to compare them with bands preferentially broken in constitutional and sporadic translocations. The first sample included 204 cases of variant Ph1 translocations with 221 identified break‐points (bp), the second consisted of 106 cases of non‐Robertsonian constitutional translocations with 213 bp identified, and the third one of 185 bp identified in sporadic translocations found occasionally in single cells of subjects with normal karyotypes and without haematological disorders.A statistical analysis demonstrated that there are some bands preferentially broken in each of the samples, and this with a high level of significance (p < 0.001). The analysis of the distributions of the χ2 components permitted us to identify the 12 bands preferentially involved in variant Ph1 translocations and the 13 and 9 bands preferentially involved in constitutional and sporadic translocations, respectively. The comparison among the groups of preferential bp showed that the bands most involved in the three samples are different.Some theoretical problems related to the origin of the Ph1 chromosome are discussed.
Assignment of the human gene for uridine 5‘‐monophosphate phosphohydrolase (UMPH2) to the long arm of chromosome 17
Authors: WILSON D. E. , SWALLOllW D. M. , POVEY S. 
Published: September 2007

SummaryTwo distinct isozymes of uridine 5′‐monophosphate phosphohydrolase (UMPH) have been identified in mammalian cells. Both of these isozymes hydrolyse other pyrimidine nucleotides. One of the isozymes, UMPH2, is more active against deoxy‐nucleotides than non‐deoxynucleotides and has a wider substrate specificity. We examined the segregation of the human gene for UMPH2 in human‐mouse somatic cell hybrids. Electrophoretic analysis of UMPH2 in hybrids suggested that the enzyme is a dimer. Human UMPH2 cosegregated with the long arm of chromosome 17 in the nineteen hybrids examined. The ease of separation of the rodent and human isozymes of UMPH2 and the relative simplicity of the enzyme assay suggest that UMPH2 may be a more useful marker gene for chromosome 17 than galactokinase.
Clinical and genetic studies in six Dutch kindreds with the Dysplastic Naevus Syndrome
Authors: BERGMAN W. , PALAN A. , WENT L. N. 
Published: September 2007

SummaryIn an ancient fishing village in the neighbourhood of Leiden a cluster of melanoma‐prone families was detected. In these families atypical precursor naevi were recognizable in many melanoma patients and in their relatives. This combination of symptoms is called the Dysplastic Naevus Syndrome (DNS). The spectrum of clinical signs characterizing the phenotype of the DNS ranged from apparent lack of gene‐expression through minimal to obvious manifestations.Genetic analysis of six pedigrees revealed an autosomal dominant mode of inheritance, with a very variable expressivity of the gene, which is also rather frequently non‐penetrant. The total number of family members (affected or at risk) was 314, 243 of which were alive and were personally examined by us. In the six pedigrees a total of 33 patients with melanoma occurred.In thirty patients with multiple atypical naevi, the clinical diagnosis of DNS was histologically verified. A further thirty‐six patients with several atypical naevi were also regarded as gene carriers.Fifteen ‘normal ’ individuals had to be gene‐carriers on the basis of their position in the pedigree.
Inherited electrophoretic variants detected in a Japanese population with two‐dimensional gels of erythrocyte lysates
Authors: TAKAHASHI N. , NEEL J. V. , NAGAHATA‐SHIMOICHI Y. , ASAKAWA J. , TANAKA Y. , SATOH C. 
Published: September 2007

SummaryGenetic variation has been studied in erythrocyte lysates from 100 Japanese children and their parents by means of two‐dimensional polyacrylamide gel electrophoresis. Fifty‐five polypeptides selected without respect to variability were considered suitable for scoring. Genetic variation was encountered in 14 of these polypeptides. Family data show that the segregation of 13 variants is consistent with an autosomal codominant mode of inheritance; the remaining variant exhibits a sex‐linked mode of inheritance. Of 8 presumably identical polypeptides found variable in Japanese and/or Caucasians, differences in the occurrence or allele frequencies of polymorphisms were recognized for four. Contrary to the experience of some investigators, the amount of variation and the ethnic differences we are encountering indicate that two‐dimensional polyacrylamide gel electrophoresis is a sensitive tool for the study of genetic events.
The 12E7 red cell quantitative polymorphism: control by the Y‐borne locus, Yg
Authors: TIPPETT P. , SHAW M.‐A. , GREEN C. A. , DANIELS G. L. 
Published: September 2007

SummaryFamily and sibship analyses prove that the 12E7 quantitative polymorphism of red cells is controlled by a Y‐borne locus, Yg, in addition to the X‐borne locus, Xg. X‐Y recombination is invoked to explain the apparent exception to Y‐borne control of the 12E7 polymorphism in one family.
Genetics of Hunter Syndrome: carrier detection, new mutations, segregation and linkage analysis
Authors: CHASE D. S. , MORRIS A. H. , BALLABIO A. , PEPPER S. , GIANNELLI F. , ADINOLFI M. 
Published: September 2007

SummaryWe have investigated 31 families segregating for Hunter Syndrome in order to advance our understanding of the genetics of this disease. The hair root test for the diagnosis of carriers of Hunter Syndrome was improved by the adoption of a new diagnostic index that distinguishes between carrier and normal females better than previous methods of analysis. One hundred and eleven female relatives of the affected children were tested by such procedures. This showed that seven out of 31 mothers were not carriers (22.6%), thus suggesting a small deficit of new mutations relative to the expectation that 33 % of lethal, recessive alleles arise anew in a population at equilibrium at a sex‐linked locus with equal mutation rates in male and female gametogenesis. The difference, however, is not statistically significant. The age of the parents of new mutants was slightly but significantly raised. Nevertheless, the independent increase in the age of the fathers of new female mutants was not statistically significant. Finally, a deficit of affected males was observed. This was significant and suggests the possibility of intrauterine loss of some affected males.Linkage analysis between the Hunter Syndrome locus, three polymorphisms in the Factor IX gene and the anonymous polymorphic probes 52A and DX13 showed that the Hunter locus is fairly closely linked to DX13, and hence distal to the Factor IX gene, while no linkage was observed with the 52A polymorphic site.The maximum lod score for the linkage between factor IX and the Hunter Syndrome locus was 0.424 at θ= 025; and that for the linkage between the Hunter Syndrome locus and DX13 was 3.01 at θ= 01.