中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2015年
3期
381-384
,共4页
蓝小飞%洪小珍%许先国%陈舒%马开荣%刘瑛%何吉%朱发明%吕杭军
藍小飛%洪小珍%許先國%陳舒%馬開榮%劉瑛%何吉%硃髮明%呂杭軍
람소비%홍소진%허선국%진서%마개영%류영%하길%주발명%려항군
P1Pk血型系统%Pk表型%β-1,3-N-乙酰氨基半乳糖转移酶%分子机制
P1Pk血型繫統%Pk錶型%β-1,3-N-乙酰氨基半乳糖轉移酶%分子機製
P1Pk혈형계통%Pk표형%β-1,3-N-을선안기반유당전이매%분자궤제
P1Pk blood group system%Pk phenotype%β-1,3-N-acetylgalactosaminyltransferase%Molecular mechanism
目的 探讨P1Pk血型系统中1例罕见Pk表型的血清学特征和分子机制.方法 应用血清学技术鉴定先证者血型,应用聚合酶链反应测序技术对Pk表型相关的β-1,3-N-乙酰氨基半乳糖转移酶基因(B3GALANT1)编码区及侧翼内含子区进行序列分析.结果 先证者确认为罕见的Pk表型,血清中含有抗-P抗体,其女儿、丈夫为P2表型.测序结果显示:其丈夫、2个随机样本的B3GALANT1基因序列与对照参考序列(GenBank AB050855)完全一致,而先证者的B3GALANT1基因第433位存在C＞T纯合突变,这导致在第145位氨基酸处提前形成终止密码而表达不成熟蛋白,从而可能降低或抑制1,3-N-乙酰氨基半乳糖转移酶的活性.其女儿B3GALANT1基因第433位为C/T杂合.结论 由B3GALANT1基因433位核苷酸C＞T突变导致的Pk表型在中国人群中尚未见报道.
目的 探討P1Pk血型繫統中1例罕見Pk錶型的血清學特徵和分子機製.方法 應用血清學技術鑒定先證者血型,應用聚閤酶鏈反應測序技術對Pk錶型相關的β-1,3-N-乙酰氨基半乳糖轉移酶基因(B3GALANT1)編碼區及側翼內含子區進行序列分析.結果 先證者確認為罕見的Pk錶型,血清中含有抗-P抗體,其女兒、丈伕為P2錶型.測序結果顯示:其丈伕、2箇隨機樣本的B3GALANT1基因序列與對照參攷序列(GenBank AB050855)完全一緻,而先證者的B3GALANT1基因第433位存在C＞T純閤突變,這導緻在第145位氨基痠處提前形成終止密碼而錶達不成熟蛋白,從而可能降低或抑製1,3-N-乙酰氨基半乳糖轉移酶的活性.其女兒B3GALANT1基因第433位為C/T雜閤.結論 由B3GALANT1基因433位覈苷痠C＞T突變導緻的Pk錶型在中國人群中尚未見報道.
목적 탐토P1Pk혈형계통중1례한견Pk표형적혈청학특정화분자궤제.방법 응용혈청학기술감정선증자혈형,응용취합매련반응측서기술대Pk표형상관적β-1,3-N-을선안기반유당전이매기인(B3GALANT1)편마구급측익내함자구진행서렬분석.결과 선증자학인위한견적Pk표형,혈청중함유항-P항체,기녀인、장부위P2표형.측서결과현시:기장부、2개수궤양본적B3GALANT1기인서렬여대조삼고서렬(GenBank AB050855)완전일치,이선증자적B3GALANT1기인제433위존재C＞T순합돌변,저도치재제145위안기산처제전형성종지밀마이표체불성숙단백,종이가능강저혹억제1,3-N-을선안기반유당전이매적활성.기녀인B3GALANT1기인제433위위C/T잡합.결론 유B3GALANT1기인433위핵감산C＞T돌변도치적Pk표형재중국인군중상미견보도.
Objective To study the serological characteristics and molecular mechanism for a rare pk phenotype of the P1Pk blood group system.Methods The blood group of the proband was identified by serological techniques.The coding region and flanking intronic sequences of the β-1,3-N-acetylgalactosyltransferase gene (B3GALANT1)associated with the pk phenotype were analyzed using polymerase chain reaction sequence-based typing.Results The proband was identified as having a rare pk phenotype including anti-P in her serum.The blood group of her daughter and husband showed a P2 phenotype.The nucleotide sequences of the B3GALANT1 gene of her husband and two randomly-chosen individuals were the same as the reference sequence (GenBank AB050855).Nucleotide position 433 C＞T homozygous mutation in the B3GALANT1 was found in the proband,which has resulted in a stop codon at amino acid position 145,which may produce a premature protein capable of decreasing or inhibiting the activity of the β-1,3-N-acetylgalactosyltransferase.The nucleotide position 433 C/T heterozygous in the B3GALANT1 was found in her daughter.Conclusion The pk phenotype resulted from 433 C＞T mutation in the B3GALANT1 gene has been identified.
