REGIONAL MAPPING OF THE GENE FOR FAMILIAL MEDITERRANEAN FEVER ON HUMAN-CHROMOSOME 16P13

被引：12

作者：

FISCHELGHODSIAN, N

BU, XD

PREZANT, TR

OEZTAS, S

HUANG, ZS

BOHLMAN, MC

ROTTER, JI

SHOHAT, M

机构：

[1] UNIV CALIF LOS ANGELES, SCH MED, LOS ANGELES, CA USA

[2] TEL AVIV UNIV, BASIL & GERALD FELSENSTEIN MED RES CTR, DEPT PEDIAT & MED GENET, PETAH TIQWA, ISRAEL

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1993年 / 46卷 / 06期

关键词：

CHROMOSOME; 16; GENE MAPPING; INFLAMMATORY DISORDER;

D O I：

10.1002/ajmg.1320460619

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Familial Mediterranean fever (FMF) is an autosomal recessively inherited inflammatory disorder characterized by recurrent short episodes of fever, peritonitis, arthritis, and pleuritis. Recently, linkage was demonstrated between FMF and the VNTR probes 3'HVR and 5'HVR of the alpha-globin complex at 16p13.3 (theta = 0.06-0.10, Lod(max) = 9.76-14.47) and the insertion/deletion polymorphism detected by the probe CMM65 of D16S84 (theta = 0.04, Lod(max) = 9.17). We have now mapped the FMF gene between the two flanking markers D16S283/D16S291 (theta = 0.038) and D16880 (theta = 0.159). The proximity of the microsatellite markers in D16S283 and D16S291 to the FMF gene allows preclinical diagnosis in most pedigrees with affected individuals. (C) 1993 Wiley-Liss, Inc.

引用

页码：689 / 693

页数：5

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