FAMILIAL 5Q11.2-]Q13.3 SEGMENTAL DUPLICATION COSEGREGATING WITH MULTIPLE ANOMALIES, INCLUDING SCHIZOPHRENIA

被引：24

作者：

MCGILLIVRAY, BC

BASSETT, AS

LANGLOIS, S

PANTZAR, T

WOOD, S

机构：

[1] UNIV BRITISH COLUMBIA,DEPT MED GENET,VANCOUVER V6T 1W5,BC,CANADA

[2] UNIV BRITISH COLUMBIA,DEPT PSYCHIAT,VANCOUVER V6T 1W5,BC,CANADA

[3] UNIV BRITISH COLUMBIA,DEPT PATHOL,VANCOUVER V6T 1W5,BC,CANADA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1990年 / 35卷 / 01期

基金：

加拿大健康研究院;

关键词：

5q; Gene mapping; HEXB; Segmental duplication;

D O I：

10.1002/ajmg.1320350103

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on 2 relatives with a segmental duplication of 5q11.2→13.3. The phenotype is surprisingly limited for the degree of chromosome imbalance, the propositus presenting with schizophrenia. Using RFLP markers, we have shown that the gene for HEXB lies within the duplicated region. We suggest this region as a candidate region for the location of a single major gene which predisposes to schizophrenia and which may be assessed by linkage analysis.

引用

页码：10 / 13

页数：4

共 14 条

[1]

BASSETT AS, 1988, LANCET, V1, P799

[2] SELECTIVE LINKAGE DISRUPTION IN HUMAN-CHINESE HAMSTER-CELL HYBRIDS - DELETION MAPPING OF THE LEUS, HEXB, EMTB, AND CHR GENES ON HUMAN CHROMOSOME-5 [J].