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研究一个遗传性凝血因子 (FV)缺乏症重型患者的基因缺陷。方法 :采用 RT- PCR及 PCR技术 ,对先证者FV c DNA序列全长和基因组 DNA中第 11和第 13外显子的序列进行了 PCR扩增 ,PCR产物回收纯化后直接测序。结果 :对先证者 FV基因组 DNA的部分序列的 PCR扩增 ,经 DNA测序 ,发现有两个基因突变位点 ,其中 2 86 3G→ A为中性多态性位点 ,另一个 336 6 C→ G为同义突变。对先证者 FV c DNA序列全长进行分段扩增均未见目的条带。结论 :推测先证者 FV缺乏可能为 FV基因某种新的突变导致 m RNA不稳定或转录调控异常所致。
To study genetic defects in a hereditary clotting factor (FV) deficiency severe patient. Methods: The full length of FV c DNA sequence and the 11th and 13th exons in genomic DNA were amplified by RT-PCR and PCR. The PCR products were recovered and sequenced directly. Results: There were two gene mutation sites in DNA sequence of the partial sequence of FV genomic DNA of probands, of which 2 86 3G → A were neutral polymorphic loci and the other 336 6 C → G is synonymous mutation. There was no target band for the segmented amplification of the proband’s FV c DNA sequence. Conclusion: It is speculated that proband FV deficiency may be due to a new mutation of FV gene resulting in instability of m RNA or abnormal transcriptional regulation.