Sulisalo T, Sistonen P, Hästbacka J, Wadelius C, Mäkitie O, de la Chapelle A, Kaitila I
Department of Medical Genetics, University of Helsinki, Finland.
Nat Genet. 1993 Apr;3(4):338-41. doi: 10.1038/ng0493-338.
Cartilage-hair hypoplasia (CHH) is an autosomal recessive skeletal dysplasia of unknown pathogenesis leading to short-limbed stature. Associated features include hypoplasia of hair, abnormal cellular immunity, deficient erythrogenesis, increased risk of malignancies, Hirschsprung disease, and Diamond-Blackfan type hypoplastic anaemia. We mapped the CHH gene by linkage analysis with 5 markers to chromosome 9. Multipoint linkage analysis gives a lod score of 9.94 for a location between D9S43 and D9S50. Based on strong linkage disequilibrium the closest marker, D9S50, is likely to be less than 1 cM from the gene. No heterogeneity was observed in 14 Finnish families, nor was there evidence of reduced penetrance. These results provide a starting point for the eventual cloning and characterization of the CHH gene.
软骨毛发发育不全（CHH）是一种常染色体隐性遗传性骨骼发育不良疾病，其发病机制不明，可导致短肢身材。相关特征包括毛发发育不全、细胞免疫异常、红细胞生成不足、患恶性肿瘤风险增加、先天性巨结肠以及先天性纯红细胞再生障碍性贫血。我们通过使用5个标记进行连锁分析，将CHH基因定位到了9号染色体上。多点连锁分析显示，在D9S43和D9S50之间的一个位置，lod分值为9.94。基于强烈的连锁不平衡，最接近的标记D9S50可能距离该基因不到1厘摩。在14个芬兰家庭中未观察到遗传异质性，也没有证据表明其外显率降低。这些结果为最终克隆和鉴定CHH基因提供了一个起点。
