Ahmad M, Abbas H, Haque S
Department of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Am J Med Genet. 1993 Jun 1;46(4):369-71. doi: 10.1002/ajmg.1320460405.
A Pakistani kindred comprising 5 generations contained 9 males and 4 females with alopecia universalis as a single abnormality without any associated defects. The skin biopsy from the scalp showed hair follicles without hair. Analysis of the pedigree is strongly suggestive of autosomal recessive inheritance, and consanguineous loops could account for all affected persons being homozygous for the abnormal allele.
一个包含五代人的巴基斯坦家族中有9名男性和4名女性患有全秃症,这是唯一的异常情况,没有任何相关缺陷。头皮的皮肤活检显示毛囊中没有毛发。系谱分析强烈提示常染色体隐性遗传,近亲通婚圈可以解释所有受影响的人都是异常等位基因的纯合子。