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A novel JK*02 allele in a French Canadian family

机译:在法国加拿大家庭中的一个小说JK * 02等位基因

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摘要

Four phenotypes have been described in the JK blood group system (ISBT009): Jk(a+b-), Jk(a+b+), Jk(a-b+), and Jk(a-b-), and the null phenotype Jk(a-b-) is rare. The molecular basis for the two main JK antigens is located at Nucleotide 838 (G for Jk~a (Asp280), A for Jk~b (Asn280)). Null alleles have been described in air populations, but are more frequent in Polynesian and Finn persons, and variant alleles are also described in black persons.We report a novel JK*02 allele found in a French Canadian woman which abolishes the Jk~b expression. Family members were tested for inheritance of this novel allele.
机译:在JK血液组系统(ISBT009)中描述了四种表型:JK(A + B + B +),JK(A + B +),JK(A-B +)和JK(AB-)以及零表型JK( ab-是罕见的。 两个主JK抗原的分子基于核苷酸838(G对于JK〜A(ASP280),A用于JK〜B(ASN280))。 空中人群中描述了零等位基因,但在波利尼西亚和芬兰人人员中更频繁,而变异等位基因也在黑人人中描述。我们报告了一个在法国加拿大女性中发现的新型JK * 02等位基因,废除了JK〜B表达 。 家庭成员被测试了这种新的等位基因的继承。

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