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墨西哥遗传性球形红细胞增多症患者的红细胞膜蛋白缺陷

Red cell membrane protein deficiencies in Mexican patients with hereditary spherocytosis.

作者信息

Sánchez-López J Yoaly, Camacho Ana L, Magaña Maria Teresa, Ibarra Bertha, Perea F Javier

机构信息

División de Genética, Centro de Investigación Biomédica de Occidente, CMNO, IMSS, Sierra Mojada No. 800, Col. Independencia, CP 44340, Guadalajara, México.

出版信息

Blood Cells Mol Dis. 2003 Nov-Dec;31(3):357-9. doi: 10.1016/s1079-9796(03)00207-9.

Abstract

Twenty-seven families and four individual patients with hereditary spherocytosis (HS) from the northwestern region of Mexico were studied. An autosomal dominant inheritance pattern was identified in 59% of 22 families. Densitometric analysis of erythrocyte membrane proteins revealed individual protein deficiencies in 39% of the patients studied, in whom the principal altered proteins were the alpha spectrins (13%), band 3 protein (10%), ankyrin (6%), 4.2 protein (6%), and the beta spectrins (3%). A predominant deficiency of spectrins has also been observed in other Latin American and Mediterranean countries. However, it is well known that deficiencies in these proteins are heterogeneous across different ethnic groups. A combined protein deficiency was observed in 52% of patients, most frequently involving the spectrins, band 3 protein, 4.2 protein, and 4.1 protein. In three subjects, no abnormalities were detected (10%). We conclude that, despite the observed heterogeneity, the principal affected proteins are essentially similar to those observed in other ethnic groups.

摘要

对来自墨西哥西北部地区的27个患有遗传性球形红细胞增多症(HS)的家庭和4名单独患者进行了研究。在22个家庭中,59%呈现常染色体显性遗传模式。对红细胞膜蛋白进行的光密度分析显示,在39%的研究对象中存在个别蛋白缺陷,其中主要发生改变的蛋白为α-血影蛋白(13%)、带3蛋白(10%)、锚蛋白(6%)、4.2蛋白(6%)和β-血影蛋白(3%)。在其他拉丁美洲和地中海国家也观察到血影蛋白的主要缺陷。然而,众所周知,这些蛋白的缺陷在不同种族群体中是异质性的。52%的患者存在联合蛋白缺陷,最常见的是血影蛋白、带3蛋白、4.2蛋白和4.1蛋白。在3名受试者中未检测到异常(10%)。我们得出结论,尽管观察到存在异质性,但主要受影响的蛋白与在其他种族群体中观察到的基本相似。

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