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Inbreeding in recessive diseases.

Abstract：

:The consanguinity of parents (born in France) of individuals who have a recessive disease has been studied. The frequency of first cousin marriages is less than 0.2% in the general French population. Among the parents of affected individuals the following frequencies of first cousin matings were observed: cystic fibrosis: 1.4% cystinosis: 7.1% nephronophtisis: 5.6% spinal muscular atrophy: 4.5% albinism: 5.0% achromatopsia: 12.5% (Albinism and spinal muscular atrophy are heterogeneous conditions). The increase in the frequency of first cousin marriage relative to that of the general population is much greater, as expected, in cystinosis, which is a rare disease, than in cystic fibrosis, which is the most frequent recessive disorder in France. Inbreeding in cystinosis and cystic fibrosis was also studied by computing the distance between parental birth places. This distance is smaller in cystinosis than in cystic fibrosis.

journal_name

Hum Genet

journal_title

Human genetics

authors

Tchen P,Bois E,Feingold J,Feingold N,Kaplan J

doi

10.1007/BF00527398

subject

Has Abstract

pub_date

1977-09-22 00:00:00

pages

163-7

issue

2

eissn

0340-6717

issn

1432-1203

journal_volume

38

pub_type

杂志文章

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