Genetic mapping of a novel X-linked recessive colobomatous microphthalmia
Genetic mapping of a novel X-linked recessive colobomatous microphthalmia
复制标题
DOI：
10.1002/ajmg.1330
复制
发表时间：
2001-06-15
期刊：
影响因子：
--
通讯作者：
Leach, RJ
中科院分区：
文献类型：
--
作者：
Lehman, DM;Sponsel, WE;Leach, RJ
结缔组织瘤样小眼炎是一种常见的表型不均的眼球畸形，多数无相关系统异常的病例具有常染色体显性遗传模式[McKusick，1990：Mendelian遗传学in man]，少数常染色体隐性遗传病例已被报道[Zlotogora ct al，1994：Am J Med Genet 49：261-262]。据我们所知，没有不属于综合征或多系统障碍的X连锁错构性小眼炎病例报告。在这项研究中，我们描述了一个大型家系的遗传学和临床评估，在该家系中，错构性小眼炎以X连锁隐性方式分离。根据重组断裂点分析，我们确定了标记DXS989和DXS441之间存在临界区间，将病位放在X染色体的近端短臂或近端长臂上。利用连锁分析，我们得到了标记DXS1058、DXS6810、DXS1199和DXS7132在零重组时的两点LOD得分为2.71，重叠多点分析在标记DXS1068到标记DXS7132之间建立了一个宽广的极大值，区域跨度约为28 cM。这项研究为错构性小眼炎的新基因座的存在提供了证据。(C)2001年Wiley-Liss，Inc.
Colobomatous microphthalmia is a common ocular malformation with a heterogeneous phenotype, The majority of cases without associated systemic abnormalities have an autosomal dominant inheritance pattern [McKusick, 1990: Mendelian inheritance in man], A few isolated cases with autosomal recessive transmission have been described [Zlotogora ct al,, 1994: Am J Med Genet 49:261-262]. To our knowledge, no cases of X-linked colobomatous microphthalmia that are not a part of a syndrome or a multisystem disorder have been reported. In this study, we describe a genetic and clinical evaluation of a large pedigree in which colobomatous microphthalmia is segregating in an X-linked recessive fashion. Based on recombination breakpoint analysis, we have determined that the critical interval exists between markers DXS989 and DXS441, placing the disease locus on the proximal short arm or the proximal long arm of the X chromosome. Using linkage analysis, we obtained two-point lod scores of 2.71 at zero recombination with markers DXS1058, DXS6810, DXS1199, and DXS7132, Overlapping multipoint analysis established a broad maximum from marker DXS1068 to marker DXS7132, a region spanning approximately 28 cM. This study provides evidence for the presence of a new locus for colobomatous microphthalmia. (C) 2001 Wiley-Liss, Inc.