摘要:

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 discus

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1970.tb01969.x

出版商:Blackwell Publishing Ltd    

年代:1970

数据来源: WILEY

摘要:

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 e

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1970.tb01970.x

出版商:Blackwell Publishing Ltd    

年代:1970

数据来源: WILEY

摘要:

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.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1970.tb01971.x

出版商:Blackwell Publishing Ltd    

年代:1970

数据来源: WILEY

摘要:

Sera from 223 multiply transfused patients have been tested for the piesence of prccip:tating antibodies to inheritedβ‐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 toLda. 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 facto

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1970.tb01972.x

出版商:Blackwell Publishing Ltd    

年代:1970

数据来源: WILEY