The gene for familial Mediterranean fever in both Armenians and non-Ashkenzai Jews is linked to the [alpha]-globin complex on 16p: Evidence for locus homogeneity

Journal Article · Tue Dec 01 00:00:00 EST 1992 · American Journal of Human Genetics; (United States)

OSTI ID:7063425

Shohat, M; Shohat, T; Magal, N; Danon, Y ^[1]; Bu, Xiangdong; Fischel-Ghodsian, N; Schwabe, A D; Rotter, J I ^[2]; Nakamura, Yusuke ^[3]; Schlezinger, M ^[4]

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1. Tel Aviv Univ. (Israel)
2. Univ. of California, Los Angeles (United States)
3. Cancer Inst., Tokyo (Japan)
4. Barzilai Medical Center, Ashkelon (Israel)

Familial Mediterranean fever (FMF) is a recurrent inflammatory disorder characterized by short episodes of fever, peritonitis, pleuritis, and arthritis. While FMF has been shown to be inherited in an autosomal recessive fashion in both non-Ashkenazi Jews and Armenian families, clinical differences have raised the possibility of genetic heterogeneity. As its pathogenesis is unknown, mapping of the gene for FMF may provide the first objective method for early and accurate diagnosis of this disease. After excluding 45% of the entire human genome, the authors studied 14 Armenian and 9 non-Ashkenazi Jewish families with FMF and tested linkage with the [alpha]-globin locus on chromosome 16. Analysis of the PvuII length polymorphism of the 3[prime] HVR (hypervariable region) probe showed significant linkage with the FMF gene (maximum lod score [lod[sub max]] = 9.76 at maximum recombination fraction [[cflx [theta]]] = .076). In the Armenians, the lod[sub max] = 3.61 at [cflx [theta]] = .10; and for the non-Ashkenazi Jews, lod[sub max] = 6.28 at [cflx [theta]] = .06. There was no evidence for genetic heterogeneity between the Armenians and the non-Ashkenazi Jews ([chi][sup 2] = 1.28; P = .26) or within either ethnic group ([chi][sup 2] = .00; P = .50). Thus, the gene for FMF is linked to the [alpha]-globin complex on chromosome 16p in both non-Ashkenazi Jews and Armenians. 26 refs., 1 fig., 2 tabs.

• OSTI ID: 7063425
• Journal Information: American Journal of Human Genetics; (United States), Vol. 51:6; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

59 BASIC BIOLOGICAL SCIENCES
HUMAN CHROMOSOME 16
GENETIC MAPPING
DIAGNOSIS
DISEASES
FEVER
GENES
GLOBINS
HUMAN POPULATIONS
INFLAMMATION
LENGTH
PATHOGENESIS
PERITONITIS
PLEURA
RECOMBINATION
CHROMOSOMES
DIGESTIVE SYSTEM DISEASES
DIMENSIONS
HUMAN CHROMOSOMES
MAPPING
MEMBRANES
ORGANIC COMPOUNDS
PATHOLOGICAL CHANGES
POPULATIONS
PROTEINS
SEROUS MEMBRANES
SYMPTOMS
550400* - Genetics