CARTILAGE-HAIR HYPOPLASIA GENE ASSIGNED TO CHROMOSOME-9 BY LINKAGE ANALYSIS

被引：71

作者：

SULISALO, T

SISTONEN, P

HASTBACKA, J

WADELIUS, C

MAKITIE, O

DELACHAPELLE, A

KAITILA, I

机构：

[1] FINNISH RED CROSS & BLOOD TRANSFUS SERV,SF-00310 HELSINKI,FINLAND

[2] UNIV HOSP UPPSALA,DEPT CLIN GENET,S-75185 UPPSALA,SWEDEN

[3] UNIV HELSINKI,CENT HOSP,CHILDRENS HOSP,SF-00290 HELSINKI 29,FINLAND

[4] UNIV HELSINKI,CENT HOSP,DEPT MED GENET,SF-00290 HELSINKI 29,FINLAND

来源：

NATURE GENETICS | 1993年 / 3卷 / 04期

关键词：

D O I：

10.1038/ng0493-338

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：338 / 341

页数：4

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