白塞病遗传因素的研究进展（Research Progress on genetic factors of Behcets disease）.docVIP

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白塞病遗传因素的研究进展（Research Progress on genetic factors of Behcets disease）.doc

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白塞病遗传因素的研究进展（Research Progress on genetic factors of Behcets disease）

白塞病遗传因素的研究进展（Research Progress on genetic factors of Behcets disease） Research Progress on genetic factors of Behcets disease 2011-09-13 week Gu Yueying Linton Behcets disease is chronic systemic inflammatory disease in the mouth, eyes, genitals, skin involvement as the main feature. The pathogenesis of this disease has not been fully elucidated since Turkeys dermatology doctor Behcet first described the disease in 1937 [1]. With the application of modern molecular biology tools, the role of genetic factors in the pathogenesis of Behcets disease has received increasing attention, reviewed in this paper, the genetic disease gene mutation may be associated with the pathogenesis of Behcets disease and HLA region associated with Behcets disease gene. 1 of Behcets disease pedigree investigation Family survey of about 3000 cases of Behcets disease Fresko 2 found Behcets disease families with a proportion of 3.6% (retrospective study) and 8% (prospective) of Behcets disease is a genetic predisposition to disease has been recognized. Berman 3. The investigation of a 4 generation of Behcets pedigree that certain family members showed incomplete Behcets disease clinical manifestations and speculate Behcets disease may be a variable phenotype of autosomal dominant genetic disease. There is also speculation literature of Behcets disease may be autosomal recessive genetic disease, but the Elandt-Johnson s test Stewart 4 through 15 Behcets pedigree, the data is not consistent with the autosomal recessive genetic model, thus negating the previous of Behcets disease is autosomal recessive disease that. Although the genetic model of Behcets disease is still unclear, but Fresko 2 of Behcets disease pedigree survey found an interesting phenomenon - genetic anticipation (genetic anticipation), which showed earlier offspring of Behcets disease, and there was significant statistical difference (P 0.0001) results. Has been in the X with the phenomenon of the chromosome fragility syndrome