中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2013年
2期
165-167
,共3页
类孟买型表型%FUT1基因%α1,2岩藻糖基转移酶
類孟買型錶型%FUT1基因%α1,2巖藻糖基轉移酶
류맹매형표형%FUT1기인%α1,2암조당기전이매
Para-Bombay phenotype%FUT1 gene%α-1,2-fucosyltransferase
目的 对1例类孟买血型个体及其家系进行表型鉴定和分子机制研究.方法 应用血清学方法检测ABO、H抗原；应用PCR技术扩增FUT1编码区序列.PCR产物经双酶切后进行直接测序分析.结果 先证者红细胞与抗H血清不凝集,血清学鉴定为Bmh.直接测序显示其FUT1基因编码区序列第547-552位A、G两碱基为纯合型缺失(CAGAGAG-CAGAG),第814位为A/G杂合,因此推测其单倍型分别为547 552delAG、547-552 delAG和814A＞G复合突变.先证者母亲、姐姐、妹妹血型均为B型,母亲、姐姐的FUT1基因分别为814A/G杂合和547-552 del/AG杂合,而妹妹为FUT1 547-552 del/AG杂合.先证者的FUT1 547-552 AG缺失和814A＞G复合突变均遗传自母亲.结论 在类孟买血型个体中首次发现FUT1 547-552delAG和814A＞G复合突变.
目的 對1例類孟買血型箇體及其傢繫進行錶型鑒定和分子機製研究.方法 應用血清學方法檢測ABO、H抗原；應用PCR技術擴增FUT1編碼區序列.PCR產物經雙酶切後進行直接測序分析.結果 先證者紅細胞與抗H血清不凝集,血清學鑒定為Bmh.直接測序顯示其FUT1基因編碼區序列第547-552位A、G兩堿基為純閤型缺失(CAGAGAG-CAGAG),第814位為A/G雜閤,因此推測其單倍型分彆為547 552delAG、547-552 delAG和814A＞G複閤突變.先證者母親、姐姐、妹妹血型均為B型,母親、姐姐的FUT1基因分彆為814A/G雜閤和547-552 del/AG雜閤,而妹妹為FUT1 547-552 del/AG雜閤.先證者的FUT1 547-552 AG缺失和814A＞G複閤突變均遺傳自母親.結論 在類孟買血型箇體中首次髮現FUT1 547-552delAG和814A＞G複閤突變.
목적 대1례류맹매혈형개체급기가계진행표형감정화분자궤제연구.방법 응용혈청학방법검측ABO、H항원；응용PCR기술확증FUT1편마구서렬.PCR산물경쌍매절후진행직접측서분석.결과 선증자홍세포여항H혈청불응집,혈청학감정위Bmh.직접측서현시기FUT1기인편마구서렬제547-552위A、G량감기위순합형결실(CAGAGAG-CAGAG),제814위위A/G잡합,인차추측기단배형분별위547 552delAG、547-552 delAG화814A＞G복합돌변.선증자모친、저저、매매혈형균위B형,모친、저저적FUT1기인분별위814A/G잡합화547-552 del/AG잡합,이매매위FUT1 547-552 del/AG잡합.선증자적FUT1 547-552 AG결실화814A＞G복합돌변균유전자모친.결론 재류맹매혈형개체중수차발현FUT1 547-552delAG화814A＞G복합돌변.
Objective To study genetic characteristics of an individual with para-Bombay phenotype and her family members.Methods ABO and H antigens were detected with routine serological techniques.The entire coding region of FUT1 gene was amplified by polymerase chain reaction (PCR).PCR products was purified with enzymes digestion and directly sequenced.Results The RBCs of the proband did not agglutinate with H antibody.The proband therefore has a para-Bombay phenotype (Bmh).Direct sequencing indicated the FUT1 sequence of the proband contained a homozygous 547 552 del AG and heterozygous 814A ＞G mutation,which gave rise to two haplotypes of 547 552delAG、547-552delAG and 814A＞G.The ABO blood type of the proband's mother and sisters were all B.Sequences of the FUT1 gene were 547-552 del AG、814A＞G heterozygous in the mother and elder sister,and 547 552 del AG heterozygous in her younger sister.The FUT1 547-552 del AG and 814 A＞G mutation of the proband was inherited from her mother.Conclusion A complex mutation of the FUT1 gene consisting of 547-552 del AG and 814 A＞G has been identified in an individual with para-Bombay phenotype.
