CROSSOVER ANALYSIS IN A BRITISH FAMILY SUGGESTS THAT COFFIN-LOWRY SYNDROME MAPS TO A 3.4-CM INTERVAL IN XP22

被引:11
作者
BIRD, H
COLLINS, AL
OLEY, C
LINDSAY, S
机构
[1] UNIV NEWCASTLE UPON TYNE,DEPT HUMAN GENET,NEWCASTLE TYNE NE2 4AA,TYNE & WEAR,ENGLAND
[2] PRINCESS ANNE HOSP,WESSEX CLIN GENET SERV,SOUTHAMPTON,HANTS,ENGLAND
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1995年 / 59卷 / 04期
基金
英国惠康基金;
关键词
X-LINKED MENTAL RETARDATION; COFFIN-LOWRY SYNDROME; CLS; (X)(P22); GENETIC MAPPING;
D O I
10.1002/ajmg.1320590420
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Coffin-Lowry syndrome (CLS; MIM 303600) is an uncommon X-linked disorder causing mental retardation and skeletal abnormalities. Most recently it was mapped to a 5.6-centimorgan (cM) region of Xp22, flanked distally by AFM291wf5 and proximally by DXS1052 [Biancalana et al., 1994: Genomics 22:617-625]. We present information which supports this localization and further narrows the region to approximately 3.4 cM, A recombination in a carrier from a British family means that DXS365 is the closest proximal flanking marker identified to date for the region thought to contain the CLS gene. This information reduces the region of interest by approximately 2.2 cM, a significant decrease in terms of the scale of effort which will be required to isolate and analyze candidate genes. (C) 1995 Wiley-Liss, Inc.
引用
收藏
页码:512 / 516
页数:5
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