CAJ | 학술논문

目的：针对中国壮族人群中的Lu（a-b-）表型，检测其相关的EKLF/KLF1调控基因，以揭示其分子机理和遗传背景。方法对4527名壮族人群中筛查出的22名Lu（b-）表型的先证者进行家系调查，血清学筛查家系中Lu（a-b-）个体，扩增其EKLF/KLF1调控基因的3个外显子，测序分析其遗传背景。结果在22个家系中包括先证者共检测出Lu（a-b-）表型57名。其中19个家系共51名个体的EKLF/KLF1基因中均发现同样的519-525dupCGGCGCC杂合突变；其余3个家系Lu（a-b-）表型的EKLF/KLF1基因中均发现895C＞G杂合突变。结论中国壮族Lu（a-b-）血型的分子背景可能与EKLF/KLF1基因的特异性杂合突变密切相关，且绝大多数为519-525dupCGGCGCC的杂合突变类型。
목적：침대중국장족인군중적Lu（a-b-）표형，검측기상관적EKLF/KLF1조공기인，이게시기분자궤리화유전배경。방법대4527명장족인군중사사출적22명Lu（b-）표형적선증자진행가계조사，혈청학사사가계중Lu（a-b-）개체，확증기EKLF/KLF1조공기인적3개외현자，측서분석기유전배경。결과재22개가계중포괄선증자공검측출Lu（a-b-）표형57명。기중19개가계공51명개체적EKLF/KLF1기인중균발현동양적519-525dupCGGCGCC잡합돌변；기여3개가계Lu（a-b-）표형적EKLF/KLF1기인중균발현895C＞G잡합돌변。결론중국장족Lu（a-b-）혈형적분자배경가능여EKLF/KLF1기인적특이성잡합돌변밀절상관，차절대다수위519-525dupCGGCGCC적잡합돌변류형。
Objective To reveal the molecule and genetic background of EKLF/KLF1 gene in Lu(a-b-)phenotype among Chinese Zhuang population.Methods A total of 22 probands of Lu (b-)phenotype were detected among 4 527 Chinese Zhuang population donors.The Lu (a-b-)individuals of their family members were determined by serologic methods.In addition,3 exons of EKLF/KLF1 gene were amplified and sequenced.The genetic background was analyzed by sequencing.Results Among the 22 probands,57 cases with Lu (a-b-)phenotype were determined.A total of51 individuals from 19 pedigrees showed EKLF/KLF1 519-525dupCGGCGCC heterozygous mutation.The other 3 pedigrees′Lu (a-b-)phenotype had EKLF/KLF1 (895 C>G)heterozygous mutation.Conclusions The Lu (a-b-)in Chinese Zhuang population might be caused by specific heterozygous mutations in EKLF/KLF1 gene,especially the EKLF/KLF1 519-525dupCGGCGCC heterozygous mutation.