摘要:

The inheritance of Alport's disease, hereditary nephropathy with deafness, has been re–examined using data from a large French–Canadian kindred and reports from the literature. Sibships in wliich a parent and grandparent were known to carry the gene were used to test for partial sex–linkage. A decrease, rather than the expected increase, in affected sons of affected males with an affected father makes this hypothesis untenable. No matter which grandparent was affected, mothers with the gene had equal numbers of affected and unaffected offspring of both sexes, as expected for autosomal dominant inheritance; fathers with the gene had a decrease from the expected proportion of affected sons and an increase in unaffected sons with no distortion of the sex ratio. The hypotheses of preferential segregation and of a sex–linked dominant modifier gene have likewise been discredited. The findings fit the expectation for autosomal dominant inheritance, with reduced penetrance in the sons of affected fathers; it is suggested that the unfavourable intrauterine milieu of the affected mother increases the penetrance of the gene in her sons to that in her daughters. This is supported by a lower frequency of affected offspring from asymptomatic than from symptomatic carrier mothers. The puzzle remains as to why there is a more serious disease, yet reduced penetrance in the males. Figures appropriate for genetic counselling are p

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1971.tb00293.x

出版商:Blackwell Publishing Ltd    

年代:1971

数据来源: WILEY

摘要:

A chromosome survey carried out on 233 adult male patients at a mental subnormality hospital is described. Five patients with an additional Y chromosome and six with autosome abnormalities were identified. The prevalence of patients with a detectable chromosome abnormality was 4.7%, whereas that of patients with an additional Y chromosome was 2.1%.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1971.tb00294.x

出版商:Blackwell Publishing Ltd    

年代:1971

数据来源: WILEY

摘要:

In 70 apparently healthy volunteers serum intestinal alkaline phosphatase activity was unrelated to both the fasting serum triglyceride concentration and the degree of rise of serum triglyceride level after a standard fatty meal. In addition no association was found between ABO blood group, secretor status, and the serum triglyceride concentration after a fatty meal.These findings suggest that the presence of intestinal alkaline phosphatase activity in serum, which is known to be related to ABO blood group, secretor status, and, the eating of fatty meals, is unrelated to the amount of fat absorbed by the intestinal cells.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1971.tb00295.x

出版商:Blackwell Publishing Ltd    

年代:1971

数据来源: WILEY

摘要:

A report is given on a patient with oligospermia who has a large Y chromosome with two fluorescent bands. It is suggested that the bipartite structure is the result of unequal sister–chromatid exchang

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1971.tb00296.x

出版商:Blackwell Publishing Ltd    

年代:1971

数据来源: WILEY

摘要:

Gm(a) (x) (g) (f) (b1) were examined in 84 random Norwegian families with 444 children allowing direct estimates of thef,b, a,g, ax,g, anda,b(includinga,b0b1, a,b0st, andf,b0b1) gene complex frequencies and an upper estimate of thef,gfrequency. Phcnotype and mating type patterns were random (non–assortative).Disturbed segregation ratios were found inax,g/f,b×f,b/f,bfamilies irrespective of sex of segregating parents, and in families witha,g/f,bin backcross if segregating parents were separated by sex. In the latter case excessa,gfrom females was balanced by excessf,bfrom males, this trend being present also in two other Norwegian family materials (tested for Gm(a) (x) (b1)).Gm(n) was examined in part of the material, allowing approximate frequency estimates of the polymorphicf,b,n, f,b,n–, a,g,n–, andax,g,n–and the idiomorphicax,g,n, a,g,n, a,b0st,n–anda,b b1,n– (fa, b0b1unassigned). The information on the IgGl–IgG3 and the IgGl, IgG3–IgG2 linkage relations were estimated.A family with familial low Gm(g) activity was observed and interpretations included a genetically linkedcis–IgC3–suppressorgene in analogy with thalassemia genes as well as a struct

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1971.tb00297.x

出版商:Blackwell Publishing Ltd    

年代:1971

数据来源: WILEY

摘要:

Identification of D group chromosomes was done by quinacrine mustard staining and fluorescence microscopy, as well as by3H–thymidine labeling and autoradiography. No special instruments were used for the fluorescence microscopy studies. Chromosome 13 was recognized easily by fluorescence microscopy by its typical fluorescence pattern in the lower two–thirds of the long arm, the region of the late labeling in autoradiography. Chromosomes 14 and 15 could be recognized by fluorescence microscopy in most cases. If differentiation is not quite definite,3H–thymidine labeling and autoradiography should be used to support the fin

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1971.tb00298.x

出版商:Blackwell Publishing Ltd    

年代:1971

数据来源: WILEY

摘要:

Treatment of standard human chromosomal preparations with NaOH and standard saline–citrate demonstrated constitutive heterochromatin. It is localized near the centromere or within the centromeric region in all except the Y chromosome. The technique was used for identification of G and Y chromosomes. In karyotypes of individuals with trisomy G1 (Down's syndrome) chromosomes number 21 (in the trisomy stage) possessed heterochromatin in different distribution from number 22 chromosomes; the latter having a distinctly dark stained centromere. The centromere, short arms, and proximal portion of the long arms of the Y chromosome were free of constitutive heterochromatin, which was demonstrated occupying the distal portion of the long arms. The extent of heterochromatin of the Y chromosome was identical with the heterochromatin demonstrated by quinacrine fluorochromes and responsible for the fluorescent “Y bo

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1971.tb00299.x

出版商:Blackwell Publishing Ltd    

年代:1971

数据来源: WILEY

摘要:

Sex determination in man and other mammals can be accounted for in terms of three postulates. First, that unless specifically inhibited, the differentiation of the primary gonads goes in the male direction. Second, that the specific inhibiting factor is produced by a structural gene probably located on the X chromosome; this gene need be expressed only in cells of the urogenital ridge. Third, this gene is “switched off” (rendered inactive) by a repressor substance produced by a structural gene located on the Y chromos

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1971.tb00300.x

出版商:Blackwell Publishing Ltd    

年代:1971

数据来源: WILEY

摘要:

An extensive family with a total of forty–one individuals who are either affected or reputed to be affected with hereditary hypoplasia of the enamel is presented. The distribution of patients, which spans four generations in this pedigree, appears to be consistent with X–linked dominant inheritance of the disorder. Considerable variability in the severity of affection was observed among both male and female patients. Whereas in the case of the latter, random X–chromosome inactivation may provide an explanation, in the case of the former another mechanism may have to be s

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1971.tb00301.x

出版商:Blackwell Publishing Ltd    

年代:1971

数据来源: WILEY