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目的探讨一个来自中国的 Citrin 缺陷导致的新生儿肝内胆汁淤积症(NICCD,MIM#605814)家系的基因诊断过程。方法从先证者及其所在家系其他9名成员的血样中提取 DNA,PCR扩增后行琼脂糖凝胶电泳,初步发现2个突变,并用本实验室建立的基因扫描法进一步证实,然后行DNA 测序,最终确定突变位置和性质。结果先证者为851-854del 和1638-1660dup 两种突变的复合杂合子,两种突变分别位于 SLC25A13基因外显子9和外显子16。母亲及哥哥为851-854del 携带者,父亲、一个姑姑及其子为1638-1660dup 携带者。结论该家系中 SLC25A13基因外显子9和16分别发生了缺失突变851-854del 和插入突变 1638-1660dup。
Objective To investigate the gene diagnosis of a pedigree with neonatal intrahepatic cholestasis (NICCD, MIM # 605814) caused by a Citrin deficiency in China. Methods DNA was extracted from the blood samples of probands and other 9 members of his family. After PCR amplification and agarose gel electrophoresis, two mutations were found and further confirmed by the gene scanning method established in our laboratory. DNA sequencing, the final location and nature of mutations. Results The probands were compound heterozygotes with two mutations of 851-854del and 1638-1660dup. The two mutations were located in exon 9 and exon 16 of SLC25A13 gene respectively. Mother and brother 851-854del carrier, father, aunt and son of 1638-1660dup carrier. CONCLUSIONS: A deletion mutation of 851-854del and an insertion mutation of 1638-1660dup were found in exon 9 and 16 of SLC25A13 gene in this pedigree.