X连锁重症联合免疫缺陷：通过连锁和缺失分析定位至Xq13.1-q21.1区域

X-linked severe combined immunodeficiency: localization within the region Xq13.1-q21.1 by linkage and deletion analysis.

作者信息

Puck J M, Nussbaum R L, Smead D L, Conley M E

机构信息

Children's Hospital of Philadelphia, Division of Infectious Diseases, PA 19104.

出版信息

Am J Hum Genet. 1989 May;44(5):724-30.

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1715634/

Abstract

X-linked severe combined immunodeficiency (SCID) (McKusick 30040; IMD4) is a disease of unknown pathogenesis characterized by severe and persistent infections from early in life that are due to absence of both cellular and humoral immune function. Although the disease has been provisionally mapped to proximal Xq, high lethality and lack of a carrier test have limited the number of scorable meioses. We performed linkage analysis in six new kindreds with X-linked SCID, using a random pattern of T-cell X inactivation to rule out the carrier state in at-risk women. Our linkage results, combined with analysis of Xq interstitial deletions, confirmed the regional assignment of X-linked SCID, narrowed the boundaries within which this locus lies to Xq13.1-q21.1, and established the locus order DXS159-(PGK1, SCID)-DXS72-DXS3, defining flanking markers for prenatal diagnosis and carrier testing.

摘要

X连锁重症联合免疫缺陷病（SCID）（麦库西克编号30040；IMD4）是一种发病机制不明的疾病，其特征为自生命早期起即出现严重且持续的感染，这是由于细胞免疫和体液免疫功能均缺失所致。尽管该疾病已初步定位于Xq近端，但高致死率以及缺乏携带者检测方法限制了可用于分析的减数分裂数量。我们对六个患有X连锁SCID的新家族进行了连锁分析，利用T细胞X染色体随机失活模式来排除高危女性的携带者状态。我们的连锁分析结果，结合对Xq间质性缺失的分析，证实了X连锁SCID的区域定位，将该基因座所在范围缩小至Xq13.1 - q21.1，并确定了基因座顺序为DXS159 -（PGK1，SCID）- DXS72 - DXS3，从而确定了用于产前诊断和携带者检测的侧翼标记。

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Prenatal diagnosis of severe combined immunodeficiency and X-linked agammaglobulinemia.

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Unbalanced X chromosome mosaicism in B cells of mice with X-linked immunodeficiency.患有X连锁免疫缺陷的小鼠B细胞中X染色体嵌合体失衡。

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Genetic deficiencies of adenosine deaminase and purine nucleoside phosphorylase: overview, genetic heterogeneity and therapy.腺苷脱氨酶和嘌呤核苷磷酸化酶的遗传缺陷：概述、遗传异质性与治疗

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A monoclonal antibody micromethod for studying fetal lymphocytes: potential for prenatal diagnosis of inherited immunodeficiencies.一种用于研究胎儿淋巴细胞的单克隆抗体微量方法：遗传性免疫缺陷产前诊断的潜力

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Restriction site polymorphism in the phosphoglycerate kinase gene on the X chromosome.X染色体上磷酸甘油酸激酶基因的限制性酶切位点多态性

Hum Genet. 1984;66(2-3):217-9. doi: 10.1007/BF00286604.

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Proc Natl Acad Sci U S A. 1987 Sep;84(18):6521-5. doi: 10.1073/pnas.84.18.6521.

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