bluuebunny/crossref_metadata_2025_split huggingface dataset:
A haptoglobin mating frequency, segregation and ABO blood‐group interaction analysis for additional series of families
Authors: KIRK R. L. 
Published: September 2007

SUMMARYData for a further eight series, comprising a total of 2349 families with 5701 tested children, has been analysed for evidence of disturbances in mating frequency, number of offspring and segregation with respect to haptoglobin type. Five of the series were examined also for interaction effects between the ABO blood‐group and haptoglobin systems.There was no significant departure from expectation for the frequency of matings in the haptoglobin system with the exception of the mating class Hp 1‐1 × 2‐1 in series no. 2. However, a comparison of the number of matings in the reciprocal mating classes 1‐1 × 2‐1 and 2‐1 × 1‐1 shows a significant excess of 2‐1 × 1‐1 matings. This excess is reflected even more in the number of children in the 2‐1 × 1‐1 mating class compared with the number in the reciprocal 1‐1 × 2‐1 class.There is a significant distortion in the Hp types of offspring in the Hp2‐1 × 2‐2 mating class for all series combined as well as for series nos. 1 and 8 considered individually, the Hp2‐1 offspring being in excess. Series no. 7 shows a deviation also, but in the opposite direction to that in the other series.A comparison of the Hp1 gene frequencies among children born to parents who are classified as either compatible or incompatible for the ABO blood‐group system shows that the Hp1 frequency is higher for the incompatible class in each of the five series for which information is available, the difference being significant in series nos. 2 and 3.
A statistical and genetical study of diabetes I. Prevalence and morbidity
Authors: FALCONER D. S. , DUNCAN L. J. P. , SMITH CHARLES 
Published: September 2007

SUMMARY1. Records of current age and onset age of known diabetics resident in Edinburgh and alive at 1 January 1968 were obtained. Ascertainment was estimated to be between 90 and 95% complete.2. The overall prevalence was 0–57% in males and 0–67% in females.3. The age‐specific morbidity risks were estimated by a new method which uses the information from all living diabetics by relating the frequency to the duration of the disease.4. The morbidity risk increases continuously with age and reaches 2 % per annum at the age of 70, after which it levels off but does not decline.5. Cumulation of the annual morbidity risks leads to estimates of the ‘potential prevalence’ at successive ages. This is the prevalence expected if the mortality of diabetics was the same as that of the non‐diabetics and if the morbidity risks were the same as they are now. The potential prevalence increases with age faster than the actual prevalence; at 40 it is about twice as great and at 80 about eight times.6. The difference between the actual and the potential prevalence may be due to higher mortality of diabetics or to the morbidity risk increasing with time, or to both. By analysis of the frequency of diabetics in relation to the duration of the disease and the date of diagnosis estimates were made of the rate of mortality or of the rate of increase of the morbidity risk.7. Assuming constant morbidity risk, the additional annual mortality risk to diabetics is 1–2% at age 10, rising to 20% at age 80. Relative to the population, the mortality is 20 times at age 20 and 2 times at age 80.8. Assuming no additional mortality, the morbidity risk would have to have increased by 1–2% per annum at age 10 and 8–10% per annum at age 60 to account for the difference between the actual and the potential prevalence. The number of registrations at the Clinic showed an increase of only 3 % per annum in males and no increase in females.
A distinctive pigment of the skin in New Guinea indigenes
Authors: WALSH R. J. 
Published: September 2007

SUMMARYAn unusual pigmentation of skin is described amongst indigenes of widely scattered areas in New Guinea. It is suggested that it is due to the accumulation of a red intermediary metabolite in the formation of melanin, and that it results from a metabolic error determined by an autosomal recessive gene. Pedigrees of thirty‐three families with red skins are presented and analysed. The pigment could not be identified by histochemical studies of biopsy specimens and a portable reflectance spectrophotometer did not define its characteristics. The gene is present in high frequency in some areas in which it must possess a significant survival advantage.
Placentation and zygosity ot triplets and higher multiple births in Ibadan, Nigeria
Authors: NYLANDER P. P. S. , CORNEY G. 
Published: September 2007

SUMMARYPlacentation and zygosity were studied in forty‐four sets of triplets and 1 set of quadruplets in Ibadan, Western Nigeria, between January 1967 and December 1969. Amongst those triplet sets with known placentation, 1 (2–5%) was monochorionic, 10 (25‐0%) were dichorionic and 29 (72‐5%) were trichorionic.Zygosity was determined by sex, type of placentation and genetically determined characters in red cells and placental tissue. It was possible to determine the zygosity of forty sets of triplets and of these 2 (5‐0%) were likely to be MZ, 14 (35‐0%) were likely to be DZ and 24 (60‐0%) were TZ. The high proportion of TZ sets is consistent with previous reports of a high rate of DZ twinning in the same population as compared with other Negro and Caucasian populations.
Studies on the separate isozymes of red cell acid phosphatase phenotypes A and B
Authors: FISHER R. A. , HARRIS HARRY 
Published: September 2007

SUMMARYComparisons were made of some of the properties of the isozymes of types A and B red cell acid phosphatase. In each case, the more anodal isozyme had a higher pH optimum and a lower Km for ^‐nitrophenyl phosphate. Thermostability tests indicated that this isozyme was also the least stable in both types. Evidence is also presented which suggests that the two isozymes within one type are interconvertible.
Further studies on the molecular size of red cell acid phosphatase
Authors: FISHER R. A. , HARRIS HARRY 
Published: September 2007

SUMMARYEstimates of the molecular weight of red cell acid phosphatase have been made by gel filtration under denaturing conditions, i.e. in 6 M guanidine hydrochloride. The results suggest a figure of 14,800 which is almost twice as high as previous estimates obtained by gel filtration in the native form.
THE INHERITANCE OF MUSCULAR DYSTROPHY: FURTHER OBSERVATIONS
Authors: WALTON JOHN N. 
Published: September 2007

SUMMARYThe results are reported of a survey of the mode of inheritance of muscular dystrophy as determined from a series of sixty‐seven cases occurring in seventeen families.In seven families containing cases of the Duchenne‐type muscular dystrophy there were thirty‐seven oases of which one appears to be female, although her polymorphonuclear leucocytes do not show female characteristics. Nevertheless in all families the mode of inheritance was characteristic of that due to a sex‐linked recessive gene. In three of the families the onset of the disease was as late as the second or third decade.In three families of facioscapulohumeral dystrophy there were at least eleven affected individuals including three abortive cases. The pattern of inheritance suggested that this disease is carried as an autosomal dominant character, though possibly with sex limitation (to females) or incomplete manifestation in some families.Nineteen cases of limb‐girdle dystrophy occurred in eight sibships of seven families; this form of the disease appears to be transmitted as an autosomal recessive character.I am grateful to Dr E. A. Carmichael for his encouragement and advice during the course of this study and to the physicians and Medical Committee of the National Hospital, Queen Square, for permission to review these cases. I also appreciate the advice of Prof. L. S. Penrose and Dr Ursula Philip and the help given by Dr W. M. Davidson of King's College Hospital, London, Dr Ursula Mittwoch of the Galton Laboratory, and Dr R. B. Thompson of Newcastle upon Tyne in sexing the nuclei of case IV. 1 of family D. 1. I also acknowledge with thanks financial assistance given by the Muscular Dystrophy Associations of America, Inc. and the invaluable help of my secretary, Mrs B. Wilson.
X‐CHROMOSOMAL OCULAR ALBINISM IN A DUTCH FAMILY*
Authors: WAARDENBURG P. J. , VAN DEN BOSCH J. 
Published: September 2007

SUMMARYA large Dutch family stock with X‐chromosomal ocular albinism is recorded. The first generations have been formerly described by Engelhard as cases of hereditary nystagmus. This nystagmus was present indeed in all the males and in the only female person affected, but it proved to be a secondary one. The patients showed a kind of albinoidism of the tapetum, which was not quite devoid of pigment. It was combined with a hypoplasia of the fovea as in generalized albinism. The question is discussed whether this type of albinism is fully restricted to the eye or not. The mode of inheritance is an intermediate one. The female carriers are recognizable as heterozygotes by diascleral translucency of their irides and by irregular peripheral pigmentation of their fundi. The method of examination employed by the authors is described. Stress is laid upon the practical value of this research because it is now possible for daughters of transmitter females to obtain a scientifically justified prognosis for their eventual offspring.
THE RELATIONSHIP BETWEEN PARENTAL AGE, BIRTH ORDER and THE SECONDARY SEX RATIO IN HUMANS*
Authors: NOVITSKI E. , SANDLER L. 
Published: September 2007

SUMMARYAn analysis is made of the change in secondary sex ratio in humans as the ages of the parents increase, and also as the age of the mother and birth order increases. It is shown that both age of the father and birth order are significantly correlated with this change in sex ratio, whereas the age of the mother is not. The changes with increasing birth order and with increasing age of the father are so similar when properly compared, that they appear quite likely to be caused by the same underlying factor.
NAIL‐PATELLA SYNDROME: EVIDENCE FOR MODIFICATION BY ALLELES AT THE MAIN LOCUS
Authors: RENWICK J. H. 
Published: September 2007

SUMMARYParent‐child correlations of approximately zero and sib‐sib correlations of approximately one‐half have beefi obtained in respect of the grade of seventy in the nail‐patella syndrome. The nail defect and the patellar size have been used as indices of severity.These findings are interpreted as evidence for the operation of a series of modifying genes at the nail‐patella locus itself and a possible method of confirming this interpretation is suggested in which use is made of the known linkage between this locus and the ABO locus.
Isochromosome for the short arm of X, a human 46, XXpi syndrome
Authors: CHAPELLE ALBERT de la , SCHRÖUDER JIM , PERNU MAURI 
Published: September 2007

SUMMARYCytogeetical and clinical findings in a 17 year‐old female with te karyotype 46, XXpi are presented. The patient was 159 cm tall and had never menstruated. The gonads were not palpable and secondary sex characteristics were poorly developed. She had no somatic sgns of Turner's syndrome apart from a renal anomaly. The abnormal X chromosome could be identified as an Xpi by its characteristic fluorescence patterns and Giemsa staining properties after the ASG procedure. Autoradiography showed it to be the latest‐labelling chromosome in nearly all cells. Sex chromatin bodies were normal in number and decreased in size (79% of normal). These findings, taken with the incomplete data from two presumptive XXpi cases reported by others, indicate that the karotype 46, XXpi produces a clinical picture distinguishable from Turner's syndrome.The proposita and her father were Xg(a+), and her mother Xg(a−), indicating paternal derivation of the normal X chromosome. Hence the Xpi appears to be of maternal origin. Other interpretations are possible.The findings lend added support to the hupothesis that genes controlling gonodal development are carried in both Xp and Xq, whereas those affecting stature are in Xp but probably not in Xq.It is proposed that at isochromosome formation Xqi is far more likely to be produced than Xpi. This may be because breakage preferentially occcurs at the short‐arm end of the centromere region or in the short arm itself, as indicated by the existence of presumptive dicentric Xqi chromosomes.
Distribution of gene frequencies in a geographically structured population III. Distribution of deleterious genes and genetic correlation between different localities*
Authors: MARUYAMA TAKEO 
Published: September 2007

SUMMARYDistribution of gene frequencies and gentic correlation of different localities in a geographically structured population were investigated for various deleterious genes. Approximation formulae were obtained and they were checked by computer simulations. Effect of selection on the genetic correlation was discussed.
Probable assignment of the locus determining human red cell acid phosphatase ACP1 to chromosome 2 using somatic cell hybrids
Authors: POVEY SUSAN , SWALLOW DALLAS M. , BOBROW MARTIN , CRAIG IAN , HEYNINGEN VERONICA van 
Published: September 2007

SUMMARYTwelve independent interspecific hybrid lines, from six different crosses, together with nine subclones, were tested for the presence of the human enzymes ACP1, MOR‐S and ICD‐S. The hybrids were also tested for a total of 27 other human enzymes. With one exception the data were consistent with the synteny of ACP1, MOR‐S and ICD‐S. Detailed chromosome analysis of the subclones confirmed the assignment of these loci to chromosome 2. In the remaining hybrid chromosome 2 was present, together with MOR‐S and ICD‐S but ACP1 was not seen. Possible explanations for this discrepancy are discussed.
A study of possible factors influencing the variation in liver alcohol dehydrogenase activity in individuals of the ‘usual’ ADH phenotype
Authors: AZEVÊDO ELIANE , SMITH MOYRA , HOPKINSON D. A. , HARRIS HARRY 
Published: September 2007

SUMMARY

The influence of five factors (cause of death, age at death, sex, ADH3 phenotype and time between death and autopsy) on the total levels of alcohol dehydrogenase (ADH) activity exhibited by crude extracts of human post‐mortem liver specimens in a series of 954 adult individuals have been examined.
The cause of death was found to be the most important factor: livers from patients dying from a sudden traumatic accident or illness of acute onset showed, on average, two or three times more ADH activity than the livers from patients dying of a chronic illness or cancer.
Age at death and sex appeared to have only small effects on total liver ADH activity: in general, samples from young adults showed slightly higher levels than samples from old people and males gave slightly more activity than females.
Liver ADH activity was not markedly influenced by ADH3 phenotype.
Delays of up to 10 days between death and autopsy seemed to exert little influence on the ADH activity of post‐mortem liver specimens.
Regulation in man × man somatic cell hybrids: possible negative control of Arylsulphatase A
Authors: HORS‐CAYLA M. C. , HEUERTZ S. , PICARD J. Y. , FRÉZAL J. 
Published: September 2007

SUMMARYQuantitative assays demonstrate that the level of the lysosomal enzyme arylsulphatase A (ASA) is very low in the heteroploid human line D98 AH2.Intraspecific cell fusion between that strain and human diploid fibroblastic strains has been obtained. Hybrid cells are distinguished by their karyotypes and by the electrophoresis pattern for phosphoglucomutase, locus PGM1.ASA activity of hybrid cells was nearly as low as activity of the D98 AH2 line: deficiency is dominant over non deficiency.Several hypotheses are discussed: one of them involves a negative control of the enzyme arylsulphatase A.
Early fusion of two human embryos?
Authors: CHAPELLE ALBERT DE LA , SCHRÖDER JIM , RANTANEN PENTTI , THOMASSON BJÖRN , NIEMI MIKKO , TIILIKAINEN ANJA , SANGER RUTH , ROBSON ELIZABETH B. 
Published: September 2007

SUMMARYAn infant chimaera with an XX and an XY cell line is described. She had a macroscopically and histologically normal ovary on the right and an ovotestis on the left. Biopsies from the gonads revealed 1–15% of XY cells as judged by fluorescent Y body findings of uncultured cells as well as by karyotypes of mitoses from long term cultures. Ovarian and testicular structures had similar frequencies of the two cell lines. There was no evidence of in vitro selection of cells during tissue culture.In addition to the sex chromosomal evidence, two paternal contributions could be deduced from the segregation pattern in the proposita and her parents of the following systems: a fluorescent marker on chromosome 22, HL‐A antigens, Xgaand MNSs. Evidence for two maternal contributions came from a fluorescent marker on chromosome 3, HL‐A and ADA. The distribution of the two cell lines in different tissues was unequal, the frequency of the XY cells being 1–15% in gonadal tissues and approximately 90% in lymphocytes and erythrocytes.The inheritance of the maternally derived fluorescent marker on chromosome 3 indicates that the two maternal nuclei cannot have been the ovum and the second polar body provided no crossing‐over had occurred between the centromere and band 3q11. Participation of one or both of the products of the first meiotic division (i.e. secondary oocyte nuclei) was discussed but thought to be improbable. It is therefore likely, but not formally proven, that the chimaera had originated from the early fusion of two separate embryos.
Enolase: human tissue distribution and evidence for three different loci*
Authors: CHEN SHI‐HAN , GIBLETT ELOISE R. 
Published: September 2007

SummaryFour different cellogel electrophoretic patterns of enolase were found in human tissue extracts. They consisted cf:

one strongly stained band (I) and two minor bands (II and III) found in haemolysates, white cell, skin fibroblast and kidney extracts;
a three‐banded pattern in brain resembling that of haemolysates except for heavier concentrations of bands II and III;
a single component corresponding to band I, found in liver, heart, intestine, spleen and placenta;
a single band with slightly faster mobility than band I, found in adult muscle extracts.

The haemolysate of an individual with the heterozygous ENO11/ENO21, genotype had a triple‐banded pattern replacing band I, a double‐banded pattern replacing band IP and a single weakly staining band III. This finding, as well as the results of dissociation and recombination experiments, supports the hypothesis that the enzyme is a dimer formed by random interaction of two polypeptide chains (α and β) synthesized by two independent gene loci (ENO1, and ENO2,). Evidence for a third locus, ENO3, is supplied by the electrophoretic pattern of muscle extracts.
Ages of death of children with Huntington's Chorea and of their affected parents
Authors: VLIS M. VEGTER‐VAN DER , VOLKERS W. S. , WENT L. N. 
Published: September 2007

SummaryBird et al. (1974) noted an interesting ‘anticipation’ phenomenon in Huntington's Chorea occurring in patients who inherited the gene from their father. More extensive samples from 165 pedigrees in the Low Countries permitted us to show that most of this apparent ‘anticipation’ is an artifact due to sampling biases related to the year of birth categories of the affected parents. When these biases were excluded no differences exist between the ages of death of affected mothers and their affected children, but a small difference of approximately two ymrs remains between affected fathers and their affected children. This is explainable by the observation that juvenile cases of Huntington's Chorea usually have inherited the abnormality from their father.
Genetic markers in trisomies 13 and 18
Authors: CÔCTÉ GILBERT B. , EDWARDS J. H. 
Published: September 2007

SummaryData on centromeric linkage for trisomies 13 and 18 are presented. There is no substantial evidence that any of these loci studied are on either chromosome. There is weak evidence relating the locus defining the Kidd groups to chromosome 18.
Population structure of Barra (Outer Hebrides)
Authors: MORTON N. E. , SMITH C. , HILL R. , FRACKIEWICZ A. , LAW P. , YEE S. 
Published: September 2007

SummaryHistorical demography, surname concordance (isonymy), migration, and genealogy give a consistent description of population structure. The census size has averaged about 1400 over the last five centuries. Conjoined with an effective migration rate of 0.05 per generation as estimated by three different methods, this gives an evolutionary size of 638, random kinship of 0–008 and inbreeding of 0.007 relative to the rest of Britain. The population structure of Barra is similar to other British isolates in the recent past, but an order of magnitude less inbred than slash‐and‐burn agriculturalists and Pacific Islanders. Some consequences for rare genes and polymorphisms are discussed.
The frequency in Japanese of genetic variants of 22 proteins
Authors: FERRELL R. E. , UEDA N. , SATOH C. , TANIS R. J. , NEEL J. V. , HAMILTON H. B. , INAMIZU T. , BABA K. 
Published: September 2007

SUMMARYThis paper presents the results of an electrophoretic survey of approximately 4000 individuals from the cities of Hiroshima and Nagasaki, Japan, for four serum proteins: albumin, ceruloplasmin, haptoglobin and transferrin. The haptoglobin gene frequencies obtained for the HP1‐HP2 polymorphism are in agreement with earlier reports. Rare electrophoretic variants of albumin, ceruloplasmin and haptoglobin occur with frequencies of 2.48, 0.50 and 0.58 per 1000 determinations, respectively. The noteworthy finding of 8 distinct transferrin variants in these populations, with a combined frequency of 20.90 per 1000 determinations, is also presented. Four of these variants (DCh1, B1, B3 and Dhir2 which corresponds electrophoretically to D4) have been reported in other populations in Japan, but the other five have not previously been differentiated.
The frequency in Japanese of genetic variants of 22 proteins III. Phosphoglucomutase‐1, phosphoglucomutase‐2, 6‐phosphogluconate dehydrogenase, adenylate kinase, and adenosine deaminase
Authors: SATOH C. , FERRELL R. E. , TANIS R. J. , UEDA N. , KISHIMOTO S. , NEEL J. V. , HAMILTON H. B. , BABA K. 
Published: September 2007

SUMMARYFive enzyme systems, PGM1, PGM2, ADA, 6‐PGD and AK, were examined by electrophoresis in over 4000 samples from Hiroshima and Nagasaki for the frequencies of common and rare variants. In the PGM1, system, the PGM21 allele and PGM71; allele were found in polymorphic proportions. I n addition, five kinds of slow variants and three types of fast variants of PGM1 were detected. The PGM3 NGS 11 allele was found in five individuals from Nagasaki, but was not observed in samples from Hiroshima. There were no variants of PGM2. Three kinds of fast variants of 6‐PGD were detected. NO variation in AK was observed. There were no rare variants of ADA. The 6‐PGDc allele had a frequency of 0.084 in Hiroshima, and 0.093 in Nagasaki, and the ADA2 allele frequencies of 0.025 in Hiroshima and 0.032 in Nagasaki.