He P P, Zhang X J, Yang Q, Li M, Liang Y H, Yang S, Yan K L, Cui Y, Shen Y Y, Wang H Y, Sun L D, Du W H, Shen Y J, Xu S J, Huang W
Institute of Dermatology and Department of Dermatology at No. 1 Hospital, Anhui Medical University, and Key Laboratory of Genome Research at Anhui, 69 Meishan Road, Hefei, 230032 Anhui, China.
Br J Dermatol. 2004 May;150(5):837-42. doi: 10.1111/j.1365-2133.2004.05913.x.
Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal congenital alopecia with progressive hair loss starting in early childhood and accelerating at puberty. A locus for MUHH has been mapped on chromosome 8p21 but no genes for MUHH have been identified to date.
To refine the MUHH locus to a narrow chromosome region to facilitate cloning of the gene.
We performed genotyping and linkage analysis in a multigeneration Chinese family with MUHH, using 18 high-density microsatellite markers spanning the previously mapped interval at 8p21.
Significant evidence for linkage was observed in this region, with a maximum two-point LOD score of 3.01 (theta = 0). Haplotype analysis localized the MUHH locus within the region defined by D8S282 and D8S1839. This region overlaps by 1.1-cM with the previously reported MUHH region and represents a physical distance of about 380 kb.
This study provides a refined map location (1.1 cM) for isolation of the gene causing MUHH. These data also indicate the existence of a common MUHH locus at 8p21.3 between affected caucasian and Chinese families.
玛丽·乌纳遗传性少毛症（MUHH）是一种罕见的常染色体先天性脱发症，在儿童早期开始出现进行性脱发，并在青春期加速。MUHH的一个基因座已定位在8号染色体p21区域，但迄今为止尚未鉴定出MUHH的相关基因。
将MUHH基因座细化到一个狭窄的染色体区域，以促进该基因的克隆。
我们对一个患有MUHH的中国多代家系进行了基因分型和连锁分析，使用了18个高密度微卫星标记，这些标记跨越了先前在8p21定位的区间。
在该区域观察到显著的连锁证据，最大两点LOD得分为3.01（θ = 0）。单倍型分析将MUHH基因座定位在由D8S282和D8S1839定义的区域内。该区域与先前报道的MUHH区域重叠1.1厘摩，代表约380 kb的物理距离。
本研究为分离导致MUHH的基因提供了精确的图谱定位（1.1厘摩）。这些数据还表明，受影响的白种人和中国家系在8p21.3存在共同的MUHH基因座。
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