Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22

被引：18

作者：

Afzal, AR

Rajab, A

Fenske, C

Crosby, A

Lahiri, N

Ternes-Pereira, E

Murday, VA

Houlston, R

Patton, MA

Jeffery, S ^{[1
]}

机构：

[1] Univ London St Georges Hosp, Sch Med, Med Genet Unit, London SW17 0RE, England

[2] Univ Fed Santa Catarina, Dept Clin Med, Florianopolis, SC, Brazil

[3] Inst Canc Res, Genet Sect, Sutton, Surrey, England

来源：

HUMAN GENETICS | 2000年 / 106卷 / 03期

基金：

英国惠康基金;

关键词：

D O I：

10.1007/s004390051049

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Autosomal recessive Robinow syndrome is a form of mesomelic dwarfism with multiple rib and vertebral anomalies. Using autozygosity mapping we have identified a genetic locus (RBNW1) for this syndrome at chromosome 9q22 in seven consanguineous families from Oman. Our results indicate that the gene lies within a 4 cM region between markers D9S1836 and D9S1803 (maximum multipoint LOD score 12.3). In addition, we have analysed two non-Omani families with autosomal recessive Robinow and found no genetic heterogeneity.

引用

页码：351 / 354

页数：4

共 10 条

[1]

Aksit S, 1997, CLIN GENET, V52, P226

[2]

BENTZ H, 1989, J BIOL CHEM, V264, P20805

[3]

JEFFERY S, 1993, CLIN GENET, V44, P173

[4]

KRUGLYAK L, 1995, AM J HUM GENET, V56, P519