摘要
目的 探讨中国人结节性硬化症 (tuberoussclerosis complex,TSC)基因 (TSC1)外显子 4的基因突变特征及多态现象。方法 采用聚合酶链反应 -单链构象多态 (PCR- SSCP)技术结合 DNA测序对来源于 2 1个家系的 2 5例 TSC患者、2 3名父母及 6 0名正常对照进行了 TSC1基因外显子 4检测。结果 正常对照 SSCP均表现为一种相同的带型。在 2 5例 TSC患者中 ,有 1例散发型患者的 SSCP带型与正常对照不同 ,经 DNA测序证实该患者在 TSC1基因的外显子 4发生了 35 2 ins A杂合突变。在无症状的 2 3名父母中 ,有 1例患者的母亲亦检测到不同于正常的 SSCP带型 ,经测序证实发生了 34 7A→ C碱基改变 ,由于编码的氨基酸未改变 ,均为缬氨酸 (Val) ,考虑为一种多态现象。结论 35 2 ins A是一种新型插入突变 ,未呈热点分布。 34 7A→ C是一种罕见的新单核苷酸多态。
Objective: To study the characteristic of mutation and polymorphism in exon 4 of tuberous sclerosis complex gene (TSC1) in Chinese. Methods: Twenty-five TSC patients and 23 parents from 21 families were enrolled. The mutation of exon 4 in these subjects was identified by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and further confirmed by direct sequencing. Results: The normal controls had the same SSCP bands. In 25 TSC patients, a sporadic case was found to display variant banding pattern and be heterozygous for 352 insA mutation by sequencing. In 23 parents who were normal on clinical examination, another bandshift was found on a mother who had two affected children, which was confirmed as 347A&rarrC(Val42Val) single nucleotide polymorphism(SNP) by sequencing. Conclusion: The 352 insA mutation is a new causative mutation and the 347A&rarrC is a rare single nucleotide polyrhorphism.
出处
《中华医学遗传学杂志》
EI
CAS
CSCD
2001年第6期448-451,共4页
Chinese Journal of Medical Genetics
基金
福建省卫生厅科研基金 (97A0 1 8)
福建省教委基金(97C0 0 4)~~
