LINKAGE DATA FOR MARFAN-SYNDROME AND MARKERS ON CHROMOSOME-1 AND CHROMOSOME-11

被引：4

作者：

DEGROOTE, J

FARNDON, PA

KILPATRICK, MV

DEPAEPE, A

OORTHUYS, JW

NEVIN, NC

CHILD, AH

POPE, FM

机构：

[1] ST GEORGE HOSP,SCH MED,DEPT CARDIOL SCI,CRANMER TERRACE,LONDON SW17 0RE,ENGLAND

[2] UNIV AMSTERDAM,ACAD ZIEKENHUIS,KINDERGENEESKUNDE,AMSTERDAM,NETHERLANDS

[3] CLIN RES CTR,DERMATOL RES GRP,HARROW HA1 3UJ,MIDDX,ENGLAND

[4] BIRMINGHAM MATERN HOSP,CLIN GENET UNIT,BIRMINGHAM B15 2TG,W MIDLANDS,ENGLAND

[5] BELFAST CITY HOSP,DEPT MED GENET,BELFAST BT9 7AD,ANTRIM,NORTH IRELAND

[6] UNIV ZIEKENHUIS GENT,FAC CTR MED GENET,GHENT,BELGIUM

来源：

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

基金：

英国惠康基金;

关键词：

D O I：

10.1136/jmg.27.2.82

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Six large families with classical Marfan syndrome were studied using markers on chromosomes 1 and 11. Two of three families tested showed negative scores using D1S7 but a third family gave a positive score (0.92) at θ = 0.1. The other chromosome 1 markers typed (MUC1, NGFB, D1S8) excluded close linkage. Negative lod scores with two chromosome 11q22 markers (D11S84, D11S148) excluded at least 20 cM in this area (Z = < -2), which was chosen for study as two enzymes responsible for collagen degradation (collagenase and stromelysin) are localised to this region.

引用

页码：82 / 85

页数：4

共 16 条

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