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A new RFLP marker, SP282, at the btk locus for genetic analysis in X-linked agammaglobulinaemia families.

作者信息

Kwan S P, Walker A P, Hagemann T, Gupta S, Vayuvegula B, Ochs H D

机构信息

Department of Immunology, Rush Medical School, Chicago, Illinois 60612.

出版信息

Prenat Diagn. 1994 Jun;14(6):493-6. doi: 10.1002/pd.1970140614.

DOI:10.1002/pd.1970140614
PMID:7937587
Abstract

X-linked agammaglobulinaemia is an inherited recessive disease in which the primary defect lies in the failure of pre-B cells to develop into mature circulating B cells, due to a defective B-cell cytoplasmic tyrosine kinase (btk). For this study we introduced a new RFLP marker, SP282, which is tightly linked to the XLA locus. In conjunction with the marker DXS178, SP282 was used to identify a carrier female and predict her male offspring to be normal. Subsequently the fetus was shown to have a normal number of circulating B cells, and at 2.5 years of age, the non-affected phenotype of the child was confirmed.

摘要

相似文献

1
A new RFLP marker, SP282, at the btk locus for genetic analysis in X-linked agammaglobulinaemia families.
Prenat Diagn. 1994 Jun;14(6):493-6. doi: 10.1002/pd.1970140614.
2
Genetic heterogeneity in X-linked agammaglobulinemia complicates carrier detection and prenatal diagnosis.X连锁无丙种球蛋白血症中的遗传异质性使携带者检测和产前诊断变得复杂。
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Identification of a closely linked DNA marker, DXS178, to further refine the X-linked agammaglobulinemia locus.鉴定一个紧密连锁的DNA标记DXS178，以进一步精确定位X连锁无丙种球蛋白血症基因座。
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Early diagnosis in X-linked agammaglobulinaemia.X连锁无丙种球蛋白血症的早期诊断。
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Analysis of Btk mutations in patients with X-linked agammaglobulinaemia (XLA) and determination of carrier status in normal female relatives: a nationwide study of Btk deficiency in Greece.X连锁无丙种球蛋白血症（XLA）患者Btk基因突变分析及正常女性亲属携带者状态的确定：希腊Btk缺陷的全国性研究
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Application of carrier testing to genetic counseling for X-linked agammaglobulinemia.携带者检测在X连锁无丙种球蛋白血症遗传咨询中的应用。
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X-linked agammaglobulinemia. A clinical and molecular analysis.X连锁无丙种球蛋白血症。临床与分子分析。
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Isolation and mapping of discrete DXS101 loci in Xq22 near the X-linked agammaglobulinaemia gene locus.在靠近X连锁无丙种球蛋白血症基因位点的Xq22区域分离并定位离散的DXS101基因座。
Hum Genet. 1993 Jul;91(6):605-8. doi: 10.1007/BF00205088.

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