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一个患有原发性小头畸形的伊朗家族中MCPH1基因的新突变。

A novel mutation in MCPH1 gene in an Iranian family with primary microcephaly.

作者信息

Hosseini Miss Masoumeh, Tonekaboni Seyed Hassan, Papari Elaheh, Bahman Idea, Behjati Farkhondeh, Kahrizi Kimia, Najmabadi Hossein

机构信息

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

出版信息

J Pak Med Assoc. 2012 Nov;62(11):1244-7.

Abstract

Primary microcephaly (MCPH) is a genetic disorder in which affected individuals present with a head circumference 3 standard deviations (SDs) below the age- and sex-related mean and is accompanied by mental retardation without further associated malformations. Here we report a patient with sporadic MCPH from Northwest of Iran who was investigated for MCPH1 locus. Clinical examination and karyotype analyses were performed and microsatellite based mapping was done by using flanking and intragenic short tandem repeat (STR) markers for MCPH1 locus. For these markers the affected individual was homozygote and the parents were heterozygote. According to this pattern of allele sharing and also the cytogenetic findings, mutation screening of Microcephalin gene was performed and subsequent sequencing revealed a novel mutation in Microcephalin gene.

摘要

原发性小头畸形(MCPH)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(SDs),并伴有智力迟钝,且无其他相关畸形。在此,我们报告一名来自伊朗西北部的散发性MCPH患者,对其进行了MCPH1基因座研究。进行了临床检查和核型分析,并使用MCPH1基因座的侧翼和基因内短串联重复序列(STR)标记进行了基于微卫星的基因定位。对于这些标记,患病个体为纯合子,其父母为杂合子。根据这种等位基因共享模式以及细胞遗传学结果,对小头畸形基因进行了突变筛查,随后的测序揭示了小头畸形基因中的一个新突变。

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