1、四川地区汉族人群Rh（D）变异体分子机制研究 2、四川地区汉族人群真正Rh阴性个体基因多态性研究
发布时间：2018-07-29 17:55
【摘要】：第一部分四川地区汉族人群Rh(D)变异体分子机制研究 [目的]研究和分析四川地区汉族人群Rh(D)变异体的多态性和分子机制。为本地区的Rh(D)变异体研究填补空白,并为Rh血型的准确鉴定和临床输血提供理论基础和指导。 [方法]首先对所有样本采用血型血清学的方法鉴定,初筛阴性的样本先采用间接抗球蛋白法,以确定弱D或部分D型别样本,剩余样本再用吸收放散法,分析Del型别。此外,对样本的表型进行鉴定。用序列特异性引物-聚合酶链反应方法,对上述样本进行分型确认。未能分型成功的疑难样本进行PCR产物直接测序检测,测序结果和GenBank上标准序列进行比对,以确定变异体的类别。对其杂合性采用PCR-SSP的方法进行检测。 [结果]血清学试验检出D抗原变异型52例,经分子生物学方法检测分析,弱D15RHD(G282D)型4例,弱D12RHD(G277E)型1例,弱DRHD(L320L)1例(型别未定),弱DRHD(G263R)1例(型别未定),部分D DVI typeⅢ型2例,DELRHD(K409K)型41例,DELRHD(MlI)型1例,此外发现新等位基因RHD (A237D) 1例(基因序列号:GU998825)。RHD杂合性检测结果显示1例弱D15和9例DELRHD(K409K)型样本为RHD+/RHD+纯合子,其他均为RHD+/RHD-杂合型。 [结论]四川地区汉族人群Rh(D)变异体有丰富的类型和不同分子机制 第二部分四川地区汉族人群真正Rh阴性个体基因多态性研究 [目的]对四川地区汉族人群RhD阴性个体的基因多态性进行研究. [方法]用PCR-SSP及基因序列测定技术对经间接球蛋白试验(IAT)、吸收放散试验检测均为阴性的样本进行分型。 [结果]86例RhD阴性的样本中,包括RHD基因完全缺失个体68例、16例携带RHD-CE(2-9)-D等位基因、1例携带RHD-CE(8-9)-D等位基因、1例携带RHD(711DelC)等位基因。 [结论]四川地区汉族人群RhD阴性个体分子机制具有丰富的多态性和不同的遗传背景,其主要为RHD全缺失为主,其次为RHD-CE(2-9)-D型,并存在其他稀有的基因型。
[Abstract]:Part one the molecular mechanism of Rh (D) variant in Sichuan Han population [objective] to study and analyze the polymorphism and molecular mechanism of Rh (D) variant in Sichuan Han population. It provides theoretical basis and guidance for accurate identification of Rh blood group and clinical blood transfusion. [methods] all samples were identified by blood group serological method. Indirect antiglobulin method was used to determine the weak D or part of D type samples, and the remaining samples were analyzed by absorption and elution method. In addition, the phenotype of the sample was identified. The samples were identified by sequence specific primer polymerase chain reaction (PCR). Difficult samples failed to type were detected by direct sequencing of PCR products. The sequencing results were compared with standard sequences on GenBank to determine the type of variants. The heterozygosity was detected by PCR-SSP. [results] 52 cases of D antigen variant were detected by serological test, 4 cases of weak D15RHD (G282D) type and 1 case of weak D12RHD (G277E) type were detected by molecular biological method. There were 1 case of weak DRHD (L320L) (undetermined type), 1 case of weak DRHD (G263R) (undetermined type), 2 cases of partial D DVI type 鈪，
本文编号：2153530
[Abstract]:Part one the molecular mechanism of Rh (D) variant in Sichuan Han population [objective] to study and analyze the polymorphism and molecular mechanism of Rh (D) variant in Sichuan Han population. It provides theoretical basis and guidance for accurate identification of Rh blood group and clinical blood transfusion. [methods] all samples were identified by blood group serological method. Indirect antiglobulin method was used to determine the weak D or part of D type samples, and the remaining samples were analyzed by absorption and elution method. In addition, the phenotype of the sample was identified. The samples were identified by sequence specific primer polymerase chain reaction (PCR). Difficult samples failed to type were detected by direct sequencing of PCR products. The sequencing results were compared with standard sequences on GenBank to determine the type of variants. The heterozygosity was detected by PCR-SSP. [results] 52 cases of D antigen variant were detected by serological test, 4 cases of weak D15RHD (G282D) type and 1 case of weak D12RHD (G277E) type were detected by molecular biological method. There were 1 case of weak DRHD (L320L) (undetermined type), 1 case of weak DRHD (G263R) (undetermined type), 2 cases of partial D DVI type 鈪，
本文编号：2153530
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