Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University Islamabad, Islamabad, Pakistan.
Hum Genet. 2010 Apr;127(4):395-401. doi: 10.1007/s00439-009-0784-9.
Autosomal recessive hypotrichosis is a rare form of human genetic disorder characterized by sparse to absent hair on scalp and rest of the body of affected individuals. Over the past few years at least five autosomal recessive forms of hypotrichosis loci have been mapped on different human chromosomes. In the present study, we report localization of another novel autosomal recessive hypotrichosis locus on human chromosome 10q11.23-22.3 in a four generation consanguineous Pakistani family. All the four patients in the family showed typical features of hereditary hypotrichosis including sparse hair on the scalp and rest of the body. Human genome scan using highly polymorphic microsatellite markers mapped the disease locus to a large region on chromosome 10. This novel locus maps to 29.81 cM (28.5 Mb) region, flanked by markers D10S538 and D10S2327 on chromosome 10q11.23-22.3. A maximum multipoint LOD score of 3.26 was obtained with several markers in this region. DNA sequence analysis of exons and splice-junction sites of four putative candidate genes (P4HA1, ZNF365, ZMYND17, MYST4), located in the linkage interval, were sequenced but were negative for functional sequence variants.
常染色体隐性稀毛症是一种罕见的人类遗传疾病，其特征是受影响个体的头皮和身体其他部位的毛发稀疏或缺失。在过去的几年中，至少有五个常染色体隐性稀毛症基因座已被定位在不同的人类染色体上。在本研究中，我们报告了另一个位于人类 10q11.23-22.3 染色体上的常染色体隐性稀毛症新基因座，该基因座位于一个四代近亲巴基斯坦家庭中。该家庭的所有四名患者均表现出遗传性稀毛症的典型特征，包括头皮和身体其他部位毛发稀疏。使用高度多态性微卫星标记的人类基因组扫描将疾病基因座定位到染色体 10 上的一个大区域。该新基因座位于染色体 10q11.23-22.3 上的 D10S538 和 D10S2327 两个标记之间，距离为 29.81 cM（28.5 Mb）。在该区域的几个标记上获得了最大的多点 LOD 评分 3.26。位于连锁区间的四个候选基因（P4HA1、ZNF365、ZMYND17、MYST4）的外显子和剪接结合位点的 DNA 序列分析未发现功能序列变异。
