原发性常染色体隐性小头畸形：MCPH5基因定位于1q25-q32。
Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32.
作者信息
Jamieson C R, Fryns J P, Jacobs J, Matthijs G, Abramowicz M J
机构信息
Laboratoire de Génétique Médicale, ULB, Hôpital Erasme-Université Libre de Bruxelles, Brussels, Belgium.
出版信息
Am J Hum Genet. 2000 Dec;67(6):1575-7. doi: 10.1086/316909. Epub 2000 Nov 6.
Abstract
Primary microcephaly is thought to result from genetic defects of the developmental program that generates large brain hemispheres in humans. Autosomal recessive inheritance is likely in most familial cases, and four loci were recently mapped by homozygosity. We report homozygosity mapping of a new locus, MCPH5, with a maximum multipoint LOD score of 3.51 at marker D1S1723, in a family of Turkish origin. The minimal critical region spans 11.4 cM between markers D1S384 and D1S2655, at 1q25-q32, and encompasses the cytogenetic breakpoints of chromosomal aberrations previously reported in unrelated patients with microcephaly.
摘要
原发性小头畸形被认为是由人类发育程序中的遗传缺陷导致的，该程序负责生成大脑半球。在大多数家族性病例中，可能为常染色体隐性遗传，最近通过纯合性定位了四个基因座。我们报告了一个新基因座MCPH5的纯合性定位，在一个来自土耳其的家族中，标记D1S1723处的最大多点对数优势分数为3.51。最小关键区域位于1q25-q32的标记D1S384和D1S2655之间，跨度为11.4厘摩，并包含先前在无关小头畸形患者中报道的染色体畸变的细胞遗传学断点。
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