摘要
目的对1例α-1，2-岩藻糖基转移酶（r1，2-fucosyltransferase，FUT1）基因突变引起类孟买表型的分子机制进行分析。方法采用标准血型血清学方法鉴定血型，ABO基因型采用聚合酶链反应-序列特异性引物基因分型法（polymerase chain reaction-sequence specific primer，PCR—SSP）和PCR产物直接测序法进行鉴定，FUT1基因序列分析采用PCR产物直接测序法。结果血清学结果初步鉴定为A型类孟买型，ABO基因直接测序得知先证者基因型为A101／001（即261G／del），与PCR-SSP结果一致。FUT1基因直接测序发现先证者的两个FUT1等位基因同时发生35C〉T和658C〉T两处变异，其基因型为h^35T＋658T／h^35T＋658T。结论h^35T＋658T／h^35T＋658T是导致先证者表现为类孟买表型的直接原因，该纯合突变类型即使在类孟买表型个体中也极其罕见。
Objective To explore the molecular mechanism for a case with para-Bombay phenotype caused by α-1,2-fucosyltransferase （FUT1）gene mutations. Methods Blood phenotype of the propositus was determined by standard serological testing. Polymerase chain reaction-sequence specific primer （PCR- SSP） and direct sequencing of PCR product were used to analyze its ABO genotype. The PCR product of FUT1 gene was sequenced and analyzed. Results The phenotype of the propositus was initially detected as para-Bombay A type. Direct sequencing of ABO gene showed that the genotype of the proband was A101/ 001 （261G/del）, which was consistent with the result of PCR-SSP. Two homo-mutations, aSC〉T and 658C〉T, were detected in the FUT1 gene by sequencing, and the genotype was determined as h^35T＋658T/ h^35T＋658T. Conclusion h^35T＋658T/h^35T＋658T is responsible for the para-Bombay phenotype of the propositus. The genotype is rare even in para-Bombay populations.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2015年第6期834-836,共3页
Chinese Journal of Medical Genetics
基金
沈阳市科技计划项目（F-10-149-9-35
F10-206-1-00）
