进行性假类风湿性发育不良与6号染色体q22区域3厘摩区间的基因连锁关系。

Genetic linkage of progressive pseudorheumatoid dysplasia to a 3-cM interval of chromosome 6q22.

作者信息

Fischer J, Urtizberea J A, Pavek S, Vandiedonck C, Bruls T, Saker S, Alkatip Y, Prud'homme J F, Weissenbach J

机构信息

CNRS URA 1922, Généthon, Evry, France.

出版信息

Hum Genet. 1998 Jul;103(1):60-4. doi: 10.1007/s004390050784.

DOI:10.1007/s004390050784

PMID:9737778

Abstract

Progressive pseudorheumatoid dysplasia (PPD), MIM 208230, is an autosomal-recessive disorder, clinically characterized by spondyloepiphyseal dysplasia and progressive arthropathy. Linkage analysis of three families of different geographic and ethnic origin, including 11 affected individuals, showed strong evidence for localization of a gene for progressive pseudorheumatoid dysplasia to chromosome 6q with a maximum two-point lod score for D6S1647 of 8.34 at theta=0. Analysis of regions of homozygosity placed the gene in a 3-cM interval between D6S 1594 and D6S432. No significant shared haplotype was found for markers of the linked interval in the three families analyzed. Five genes encoding collagen and one encoding a specific procollagen-processing enzyme that map near this interval represent good candidates for the PPD gene.

摘要

进行性假类风湿性发育不良（PPD，MIM 208230）是一种常染色体隐性疾病，临床特征为脊椎骨骺发育不良和进行性关节病。对三个不同地理和种族来源的家族（包括11名患者）进行连锁分析，结果有力地证明了进行性假类风湿性发育不良基因定位于6号染色体q区，D6S1647的最大两点连锁值在θ=0时为8.34。纯合区域分析将该基因定位在D6S 1594和D6S432之间3厘摩的区间内。在所分析的三个家族中，未发现连锁区间标记有明显的共享单倍型。位于该区间附近的五个胶原蛋白编码基因和一个特定前胶原加工酶编码基因是PPD基因的良好候选基因。