Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

被引：284

作者：

Chen, KS

Manian, P

Koeuth, T

Potocki, L

Zhao, Q

Chinault, AC

Lee, CC

Lupski, JR

机构：

[1] BAYLOR COLL MED,DEPT MOL & HUMAN GENET,HOUSTON,TX 77030

[2] BAYLOR COLL MED,DEPT MED,HOUSTON,TX 77030

[3] BAYLOR COLL MED,DEPT PEDIAT,HOUSTON,TX 77030

[4] TEXAS CHILDRENS HOSP,BAYLOR COLL MED,CTR HUMAN GENOME,HOUSTON,TX 77030

来源：

NATURE GENETICS | 1997年 / 17卷 / 02期

关键词：

D O I：

10.1038/ng1097-154

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Smith-Magenis syndrome (SMS), caused by del(17)p11.2, represents one of the most frequently observed human microdeletion syndromes. We have identified three copies of a low-copy-number repeat (SMS-REPs) located within and flanking the SMS common deletion region and show that SMS-REP represents a repeated gene cluster. We have isolated a corresponding cDNA clone that identifies a novel junction fragment from 29 unrelated SMS patients and a different-sized junction fragment from a patient with dup(17)p11.2. Our results suggest that homologous recombination of a flanking repeat gene cluster is a mechanism for this common microdeletion syndrome.

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页码：154 / 163

页数：10

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