Severe combined immunodeficiency among the Navajo. I. Characterization of phenotypes, epidemiology, and population genetics.
Severe combined immunodeficiency among the Navajo. I. Characterization of phenotypes, epidemiology, and population genetics.
复制标题
纳瓦霍人患有严重的联合免疫缺陷。
作者：
J. F. Jones;Cheryl Ritenbaugh;M. Spence;A. Hayward
先前的研究已经确定了纳瓦霍美洲土著人口中严重联合免疫缺陷（SCID）的高发病率。为了确定这种疾病的发病率和群体遗传学，我们审查了1969年至1982年间死亡的所有儿童的死亡证明，确定了符合先前调查病例中确定的标准的病例，并采访了选定儿童的家庭。SCID病例在空间和时间上均有分布。从24个接受采访的家庭的数据中获得的分离参数估计为0.27-0.38，表明估计的基因频率为2.1%（反对多因素遗传）。被转诊到专科中心的SCID病例血液中缺乏T和B细胞，血清免疫球蛋白从缺失到接近正常。
Previous studies have identified a high incidence of severe combined immunodeficiency (SCID) among the Navajo Native American population. To determine the incidence and population genetics of this condition, we reviewed the death certificates of all children who died between 1969 and 1982, established the cases that met criteria identified in previously investigated cases, and interviewed the selected children's families. SCID cases were distributed spatially and temporally. Segregation parameter estimates of 0.27-0.38 were obtained from data from 24 interviewed families, suggesting an estimated gene frequency of 2.1% (arguing against a multifactorial inheritance). SCID cases referred to specialty centers lacked T and B cells in their blood, and their serum immunoglobulins ranged from absent to near normal.