摘要
目的分析1例表型为P血型标本的分子基础。方法采用血清学方法鉴定P表型；采用Sanger双脱氧测序法对标本的a-1，4半乳糖基转移酶（a-1．4-galactosyltransferase，A4GAI，T）基因进行扩增测序，分析其DNA序列；采用家系调查的方法了解P血型的遗传性。结果在-个家族中发现两例P表型且为同胞兄弟；测序结果与GenBank参考序列比对，发现该两份标本的DNA序列均存在有纯合子突变，在第3外显子出现C．343A〉T（AAA〉TAA）、C．903C：〉G（CCC〉CCG）的等位基因突变，A4GALT基因编码区域c．343A〉T的突变，导致提前形成终止密码子，从而使基因产物A4GALT不能顺利合成，最终形成P血型表型。结论A4GALT基因c．343A〉T新突变是形成该P血型的分子基础，其GenBank序列号为KC202808。
Objective To explore the molecule basis of a p blood group in a patient with gastric carcinoma. Methods The p phenotype was determined with serological method. Inheritance of the p phenotype was investigated by pedigree analysis. Sequence of a 1,4 galactosyltransferase （A4GAI.T） gene was determined by Sanger method. Results The proband and his younger brother were both determined to have a p phenotype. Two homozygous variations, e. 343A）T （AAA〉TAA） and e. 903C）G （CCC） CCG-）, have been detected in exon 3 of the A4GALT gene. Among these, e. 343 A：〉T （AAA）TAA） was a novel mutation, which has resulted in a termination codon, with which no normal product of the gene can be produced, c. 903C〉G was determined to be a polymorphism. Conclusion A novel e. 343A）T mutation in the A4GALT gene probably underlies the p phenotype, to which a Genbank access number KC202808 has been assigned.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2013年第6期736-738,共3页
Chinese Journal of Medical Genetics
