原发性常染色体隐性小头畸形的第五个基因座定位于1号染色体1q31区域。
A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31.
作者信息
Pattison L, Crow Y J, Deeble V J, Jackson A P, Jafri H, Rashid Y, Roberts E, Woods C G
机构信息
Molecular Medicine Unit, St. James's University Hospital, Leeds, LS9 7TF, United Kingdom.
出版信息
Am J Hum Genet. 2000 Dec;67(6):1578-80. doi: 10.1086/316910. Epub 2000 Nov 7.
Abstract
Primary microcephaly is a genetic disorder in which an affected individual has a head circumference >3 SDs below the age- and sex-related mean. A small but apparently normally formed brain is the reason for the reduced head circumference, and, probably because of this, all affected individuals are mentally retarded. The condition is genetically heterogeneous, and four loci have already been identified. We now report a fifth locus, MCPH5, which is an 8-cM region mapping to chromosome 1q31, defined by the markers GATA135F02 and D1S1678.
摘要
原发性小头畸形是一种遗传性疾病，患病个体的头围比与其年龄和性别相关的平均值低3个标准差以上。头围减小的原因是大脑虽小但形态明显正常，可能正因如此，所有患病个体都存在智力发育迟缓的情况。该病症在遗传上具有异质性，目前已确定了四个基因座。我们现在报告第五个基因座MCPH5，它是一个位于1号染色体1q31区域、长度为8厘摩的区域，由标记GATA135F02和D1S1678界定。
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本文引用的文献
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Am J Hum Genet. 2000 Feb;66(2):724-7. doi: 10.1086/302777.
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The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2.常染色体隐性原发性小头畸形的第二个基因座（MCPH2）定位于19号染色体的13.1 - 13.2区域。
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