通过连锁和纯合性研究对导致家族性地中海热的基因进行精细定位。
Refined mapping of the gene causing familial Mediterranean fever, by linkage and homozygosity studies.
作者信息
Aksentijevich I, Pras E, Gruberg L, Shen Y, Holman K, Helling S, Prosen L, Sutherland G R, Richards R I, Ramsburg M
机构信息
Artchritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892.
出版信息
Am J Hum Genet. 1993 Aug;53(2):451-61.
Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by attacks of fever and serosal inflammation; the biochemical basis is unknown. We recently reported linkage of the gene causing FMF (designated "MEF") to two markers on chromosome 16p. To map MEF more precisely, we have now tested nine 16p markers. Two-point and multipoint linkage analysis, as well as a study of recombinant haplotypes, placed MEF between D16S94 and D16S80, a genetic interval of about 9 cM. We also examined rates of homozygosity for markers in this region, among offspring of consanguineous marriages. For eight of nine markers, the rate of homozygosity among 26 affected inbred individuals was higher than that among their 20 unaffected sibs. Localizing MEF more precisely on the basis of homozygosity rates alone would be difficult, for two reasons: First, the high FMF carrier frequency increases the chance that inbred offspring could have the disease without being homozygous by descent at MEF. Second, several of the markers in this region are relatively nonpolymorphic, with a high rate of homozygosity, regardless of their chromosomal location.
家族性地中海热（FMF）是一种常染色体隐性疾病，其特征为发热发作和浆膜炎症；其生化基础尚不清楚。我们最近报告了导致FMF的基因（命名为“MEF”）与16号染色体短臂上的两个标记的连锁关系。为了更精确地定位MEF，我们现在检测了9个16号染色体短臂标记。两点和多点连锁分析以及重组单倍型研究将MEF定位在D16S94和D16S80之间，这是一个约9厘摩的遗传区间。我们还研究了近亲婚姻后代中该区域标记的纯合率。在9个标记中的8个标记上，26名受影响的近亲个体的纯合率高于其20名未受影响的同胞。仅根据纯合率更精确地定位MEF是困难的，原因有两个：第一，FMF携带者频率高增加了近亲后代在MEF处不是纯合子而患该病的可能性。第二，该区域的几个标记相对无多态性，纯合率高，无论其染色体位置如何。
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