GENETIC-MAPPING OF X-LINKED OCULAR ALBINISM - LINKAGE ANALYSIS IN BRITISH FAMILIES

被引：26
作者：
CHARLES, SJ
MOORE, AT
YATES, JRW
机构：
[1] ADDENBROOKES HOSP,DEPT OPHTHALMOL,CAMBRIDGE CB2 2QQ,ENGLAND
[2] ADDENBROOKES HOSP,DEPT CLIN GENET,CAMBRIDGE CB2 2QQ,ENGLAND
来源：
JOURNAL OF MEDICAL GENETICS | 1992年 / 29卷 / 08期
基金：
英国惠康基金;
关键词：
D O I：
10.1136/jmg.29.8.552
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Genetic linkage studies were performed in 16 British families affected by X linked ocular albinism (XLOA) using RFLPs from the Xp22.3 region. Linkage was confirmed between the XLOA locus (OA1) and the loci DXS143 (dic56; 7-max = 15.90 st theta = 0.0, confidence interval (CI) 0-0.035), DXS85 (782; Zmax = 15.67 at theta = 0.04, CI = 0.007-0.11), and DXS237 (GMGX9; Zmax = 12.65 at theta = 0.08, CI = 0.03-0.17). Multipoint linkage analysis placed OA1 between DXS85 (782) and DXS237 (GMGX9) with odds exceeding 10(4):1 to give the map DXS85-(OA1,DXS143)-DXS237-XG-Xpter. OA1 lies close to DXS143 (dic56) but in the absence of recombinants the order of these loci could not be determined.
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页码：552 / 554
页数：3
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