X-linked inheritance in females with chronic granulomatous disease.
X-linked inheritance in females with chronic granulomatous disease.
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患有慢性肉芽肿病的女性的 X 连锁遗传。
DOI：
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发表时间：
1980
影响因子：
15.9
通讯作者：
P. Quie
中科院分区：
文献类型：
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作者：
E. L. Mills;K. Rholl;P. Quie
男性慢性肉芽肿病是家族性的，其传播通常是明显的x连锁。患有该综合征的女性的遗传方式尚不清楚，携带者的状态难以识别。在这种疾病中，多形核白细胞杀菌活性的缺陷与刺激吞噬细胞产生的呼吸爆发的缺乏有关，并且可以通过化学发光测定法检测到。四分之三的慢性肉芽肿病女性的多形核白细胞化学发光水平极低，其无症状的母亲有中间值，其父亲正常。多态性中性粒细胞的两个受影响的男性在这些亲属没有产生化学发光，而两个7名女性亲属有中间值，所有未受影响的男性有正常值。在三个家庭中，白细胞进行了研究，硝基四氮唑蓝还原，两个群体的中性粒细胞被证明为女性患者和/或他们的母亲。临床疾病的广泛表型变异性，患者或其母亲中两个白细胞群体的证据，以及受影响女性中低但可检测到的白细胞化学发光与这些家族中X染色体失活的里昂假说一致。研究结果表明，在这些女性慢性肉芽肿性疾病的x连锁遗传。
Chronic granulomatous disease in males is familial and its transmission is is usually clearly x-linked. The mode of inheritance in females with the syndrome is unknown and the carrier state difficult to identify. Defective polymorphonuclear leukocyte bactericidal activity in this disease is associated with an absence of the respiratory burst generated in stimulated phagocytes and may be detected by the chemiluminescence assay. Polymorphonuclear leukocytes from three of four females with chronic granulomatous disease had extremely low chemiluminescence production, their asymptomatic mothers had intermediate values, and their fathers were normal. Polymorphonuclear neutrophils of two affected males in these kinships generated no chemiluminescence, whereas two of seven female relatives had intermediate values, and all nonaffected males had normal values. In the three families in which leukocytes were studied by nitroblue tetrazolium reduction, two populations of neutrophils were demonstrated for the female patients and/or their mothers. The wide phenotypic variability for clinical disease, evidence of two leukocyte populations in the patients or their mothers, and low but detectable leukocyte chemiluminescence in the affected females is consistent with the Lyon hypothesis of x-chromosome inactivation in these families. The findings suggest an x-linked inheritance in these females with chronic granulomatous disease.