LINKAGE ANALYSIS OF 5 FIBRILLAR COLLAGEN LOCI IN A LARGE FRENCH MARFAN-SYNDROME FAMILY

被引：15

作者：

BOILEAU, C

JONDEAU, G

BONAITI, C

COULON, M

DELORME, G

DUBOURG, O

BOURDARIAS, JP

JUNIEN, C

机构：

[1] HOP AMBROISE PARE,BIOCHIM & GENET MOLEC LAB,F-92000 BOULOGNE,FRANCE

[2] CHATEAU LONGCHAMP,INSERM,U73,F-75016 PARIS,FRANCE

[3] HOP AMBROISE PARE,SERV CARDIOL,F-92000 BOULOGNE,FRANCE

[4] CHATEAU LONGCHAMP,INSERM,U155,F-75016 PARIS,FRANCE

来源：

JOURNAL OF MEDICAL GENETICS | 1990年 / 27卷 / 02期

关键词：

D O I：

10.1136/jmg.27.2.78

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Marfan syndrome consists of a group of dominantly inherited disorders of connective tissue with wide clinical variability. Using the candidate gene approach, we have attempted to map the gene defect in a large French Marfan syndrome family with no ocular manifestations. We performed linkage studies with polymorphic probes for five structural procollagen genes. The data obtained exclude linkage of Marfan syndrome to the two major fibrillar collagen (COL1A1, COL1A2, and COL2A1) genes. These results confirm previously published data obtained from smaller pedigrees. A small positive lod score (Z = 0.99, θ = 0.00) was obtained for the COL3A1-COL5A2 gene cluster located on chromosome 2.

引用

页码：78 / 81

页数：4

共 22 条

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