MUTATION DETECTION IN THE X-LINKED AGAMMAGLOBULINEMIA GENE, BTK, USING SINGLE-STRAND CONFORMATION POLYMORPHISM ANALYSIS
MUTATION DETECTION IN THE X-LINKED AGAMMAGLOBULINEMIA GENE, BTK, USING SINGLE-STRAND CONFORMATION POLYMORPHISM ANALYSIS
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DOI：
10.1093/hmg/3.1.79
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发表时间：
1994-01-01
影响因子：
3.5
通讯作者：
KINNON, C
中科院分区：
文献类型：
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作者：
BRADLEY, LAD;SWEATMAN, AK;KINNON, C
X连锁无丙种球蛋白血症（XLA）中的缺陷基因最近被分离并鉴定为btk，一种非受体蛋白酪氨酸激酶。我们利用单链构象多态性（SSCP）分析技术的btk基因，以确定XLA患者的突变。对来自10个家庭的受影响男孩的btk基因进行了分析，在8例病例中发现了突变;其中7例为点突变，1例为小插入。突变在整个基因编码区被发现。其中六名患者患有经典的XLA，两名患者患有不太严重的疾病。我们还鉴定了核苷酸位置2031处的多态性。这项技术将使我们能够提供更准确的疾病诊断，并确定这些家庭中btk基因功能缺陷的性质。
The gene defective in X-linked agammaglobulinemia (XLA) has recently been isolated and identified as btk, a non-receptor protein tyrosine kinase. We have utilized the technique of single strand conformation polymorphism (SSCP) analysis for the btk gene to identify mutations in XLA patients. The btk gene in affected boys from 10 families was analysed and mutations were identified in eight cases; seven of these were point mutations and one was a small insertion. The mutations were found throughout the gene coding region. Six of the patients have classical XLA and two have less severe forms of the disease. We have also identified a polymorphism at nucleotide position 2031. This technique will allow us to provide more accurate diagnoses of the disease and to determine the nature of the functional defects in the btk gene in these families.