HOLT-GRAM SYNDROME IS A GENETICALLY HETEROGENEOUS DISEASE WITH ONE LOCUS MAPPING TO HUMAN-CHROMOSOME 12Q

被引：65

作者：

TERRETT, JA ^{[1
]}

NEWBURYECOB, R ^{[1
]}

CROSS, GS ^{[1
]}

FENTON, I ^{[1
]}

RAEBURN, JA ^{[1
]}

YOUNG, ID ^{[1
]}

BROOK, JD ^{[1
]}

机构：

[1] UNIV WALES COLL CARDIFF,COLL MED,INST MED GENET,CARDIFF CF4 4XN,WALES

来源：

NATURE GENETICS | 1994年 / 6卷 / 04期

关键词：

D O I：

10.1038/ng0494-401

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Holt-Gram syndrome (HOS) is an autosomal dominant condition affecting the heart and upper limbs. We have sought to identify the location of this gene using microsatellite DNA markers in a linkage study. Of seven families analysed, five show linkage between HOS and markers on chromosome 12q. But the two remaining families, phenotypically indistinguishable from the others, do not show this linkage. Analysis with the computer program HOMOG indicates that HOS is a heterogeneous disease. Our analysis places one HOS locus in a 21cM interval in the distal region of chromosome 12q. The localization of a gene for HOS, reported here, represents an important step towards a better understanding of limb and cardiac development.

引用

页码：401 / 404

页数：4

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