摘要
血小板无力症是一种常染色体隐性遗传性出血性疾病,在一非近亲婚配血小板无力症家系中,通过TaqⅠ/GPⅢa基因限制性片段长度多态性(RFLP)连锁分析,未能对家系各成员进行携带者诊断。DNA印迹杂交发现先证者存在一TaqⅠ酶切的2.3kb GPⅡb基因异常片段,应用该异常片段作为特异病理遗传标记,代替传统RFLP分析,在该家系中进行杂合子检测。DNA印迹法与聚合酶链式反应(PCR)分析表明:TaqⅠ异常基因片段来自母方;临床表现正常的的同胞妹妹亦有此缺陷基因,但GPⅡb/Ⅲa表现型正常,故诊断为无力症携带者。然而父亲携带另一尚未发现的有缺陷的GPⅡb等位基因,推测患者为带有两种不同的缺陷基因的双重杂合子。
Glanzmann's Thrombasthenia is an autosomal recessive inherited bleeding disorder. In a Glanzmann's thrombasthenia family without consanguineous marriage, carrier status can not be determined by Taq Ⅰ/GPⅢa RFLP linkage analysis. A Taq Ⅰ 2.3kb abnormal band of GPⅡb gene found in propositus was used as a specific genetic marker to detect the carrier status of the patient's family both by Southern blotting and by polymerase chain reaction (PCR). The above Taq Ⅰ abnormal allele was proved coming from the mother. The clinically unaffected daughter who has normal platelet GPⅡb/Ⅲa also inherited this de fective allele and was designated as a carrier. However, the father carries another abnormal allele which was not identified yet. Thus, the two affected siblings are double heterozygotes with two different defective forms.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
1992年第6期331-334,T024,共5页
Chinese Journal of Medical Genetics
基金
国家自然科学基金
关键词
血小板疾病
膜糖蛋白
基因诊断
Blood platelet disorders Platelet glycoprotein Gene diagnosis
