EVIDENCE FOR A CORRELATION BETWEEN LATE REPLICATION AND AUTOSOMAL GENE INACTIVATION IN A FAMILIAL TRANSLOCATION T(X-21)

被引：64

作者：

COUTURIER, J

DUTRILLAUX, B

GARBER, P

RAOUL, O

CROQUETTE, MF

FOURLINNIE, JC

MAILLARD, E

机构：

[1] Institut de Progénèse, Paris, F-75006, 15, rue de l'Ecole de Médecine

来源：

HUMAN GENETICS | 1979年 / 49卷 / 03期

关键词：

D O I：

10.1007/BF00569351

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A familial translocation t(X;21)(q2700;q11) is studied. A girl, trisomic for almost all the chromosome 21, has a mildly abnormal phenotype. A 2nd girl, phenotypically abnormal, is monosomic for the juxtacentromeric region of chromosome 21 only. A comparison of the replication pattern and of the activity of superoxide dismutase (gene located on chromosome 21) shows a clear correlation between late replication, gene inactivation and phenotype expression of chromosmoe 21.

引用

页码：319 / 326

页数：8

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