Unexpected high rate of de novo constitutional t(11;22) translocations in sperm from normal males

被引：60

作者：

Kurahashi, H

Emanuel, BS

机构：

[1] Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA

[2] Univ Penn, Sch Med, Dept Pediat, Philadelphia, PA 19104 USA

来源：

NATURE GENETICS | 2001年 / 29卷 / 02期

关键词：

D O I：

10.1038/ng1001-139

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Junction fragments from the constitutional t(11;22)(q23;q11) translocation have previously been cloned and sequenced. Here we report a high incidence of translocation-specific PCR products in sperm DNA from normal individuals. Somatic DNA from these and other normal individuals or from people with chromosomal breakage syndromes do not yield PCR junction fragments, indicating that this translocation originates during meiosis.

引用

页码：139 / 140

页数：2

共 14 条

[1] Meiotic studies of a human male carrier of the common translocation, t(11;22), suggests postzygotic selection rather than preferential 3:1 MI segregation as the cause of liveborn offspring with an unbalanced translocation
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[7] Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22)
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[8] KURAHASHI H, IN PRESS HUM MOL GEN
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