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目的比较中国汉族和维吾尔族(维族)人群D_(el)型基因结构和遗传特点,了解二者D_(el)型常见突变类型及其基因组合情况。方法采用微柱凝胶法检测随机非血缘关系的中国222名汉族人和55名维族人的Rh D血型,Rh D(-)者用改良间接抗球蛋白试验(IAT)确认;单克隆抗体鉴定Rh表型;吸收放散微柱凝胶法检测D_(el)型;PCRSSP方法检测RHD上游、下游和杂合Rhesus盒;PCR扩增RHD第9外显子,测序验证;PCR-SSP检测RHD基因1227位点,测序验证。结果 222例随机非血缘关系汉族血清学Rh D(-)标本和55例随机非血缘关系维族血清学Rh D(-)标本分别检出43例和1例D_(el)型;汉族Rh D(-)标本中,RHD基因型为RHD-/RHD-和RHD+/RHD-、RHD+/RHD+者的比例分别为70.72%(157/222)和27.03%(60/222)、2.25%(5/222);维族Rh D(-)标本中,只有1例RHD基因型为RHD+/RHD+,其余98.18%(1/54)标本为RHD-/RHD-;汉族和维族Rh D(-)个体RHD基因型总体分布存在差异(P<0.05);汉族和维族Rh D(-)个体的RHD-/RHD-基因型呈明显差异(P<0.05);43例随机非血缘关系的汉族D_(el)型标本RHD基因1227位点检测:1例1227G、3例1227G/A和39例1227A,结合Rhesus box检测结果,基因组合情况分别为RHD1227G/-、RHD1227G/A、RHD1227A/-和RHD1227A/A。1例维族D_(el)型标本等位基因组合为RHD1227A/A。所有RHD-/RHD-纯合子样本均未检测到RHD基因1227位点。吸收放散试验为D_(el)型者93.02%(40/43)、等位基因为RHD1227A或A/G个体均携带C抗原。结论中国汉族和维族D_(el)型人群RHD基因型绝大部分是RHD+/RHD-杂合子,都存在RHD;中国汉族和维族D_(el)型等位基因以RHD1227A为主,且与C抗原相关联。
Objective To compare the genetic structure and genetic characteristics of D el genotypes among Chinese Han and Uighur populations and to find out the common types of D el genotypes and their gene combinations. Methods The Rh D blood type of 222 Han and 55 Uighurs from China were detected by microcolumn gel method. Rh D (-) was confirmed by modified indirect antiglobulin test (IAT). Monoclonal antibody Rh phenotype; D el (el) type was detected by absorbency and microcolumn gel method; the Rhesus cassette was detected by PCRSSP method; the exon 9 of RHD was amplified by PCR and sequenced; PCR-SSP was used to detect RHD gene 1227 sites, sequencing validation. Results A total of 222 cases of unrelated serologically Rh D (-) specimens from Han nationality and 55 cases of non-unrelated Uygur serological Rh D (-) specimens were detected in 43 cases and 1 case of type D el (el) -), the proportion of RHD genotypes RHD- / RHD- and RHD + / RHD-, RHD + / RHD + were 70.72% (157/222) and 27.03% (60/222), 2.25% (5/222 ), Only one RHD genotype was RHD + / RHD +, and the remaining 98.18% (1/54) genotype was RHD- / RHD- in Uygur Rh D (-). RHD genotypes of Han and Uygur Rh D (-) individuals (P <0.05). There were significant differences in RHD- / RHD- genotypes among Han and Uygur Rh D (-) individuals (P <0.05), and 43 non-Han unrelated Han D el specimens The RHD1227G / A, RHD1227G / A, RHD1227A / - and RHD1227A / A genotypes were detected by combining the Rhesus box test results with RHD gene 1227 locus: 1 case of 1227G, 3 cases of 1227G / A and 39 cases of 1227A. One case of Uighur D_ (el) type specimen allele was RHD1227A / A. No RHD gene 1227 locus was detected in all RHD- / RHD-homozygous samples. Absorption and desorption tests were 93.02% (40/43) in type D el and alleles RHD1227A or A / G were all C antigen. Conclusions RHD + / RHD-heterozygotes are mostly found in D el genotypes of Chinese Han and Uighur people, all of which have RHD. The D allele of Chinese Han and Uighur populations are mainly RHD1227A, Associated.