A novel DI*A allele without the band 3-Memphis mutation in Amazonian Indians
A novel DI*A allele without the band 3-Memphis mutation in Amazonian Indians
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DOI：
10.1046/j.1423-0410.2003.00297.x
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发表时间：
2003-05-01
期刊：
影响因子：
2.7
通讯作者：
Castilho, L
中科院分区：
文献类型：
--
作者：
Baleotti, W;Rios, M;Castilho, L
背景与目的红细胞带3上携带的血型抗原Di（a）和Di（B）是由第854位的一个氨基酸取代（Di（a）被Leu取代，Di（B）被Pro取代）确定的。带3-孟菲斯变体在SLC 4A 1基因中具有点突变（166 A>G），其编码氨基酸取代Lys 56 Glu。两种类型的带3-孟菲斯（变体I和II）的区别在于它们对4，4 '-二异硫氰基-1，2-二苯基乙烷-2，2'-二磺酸（H-2 DIDS）共价标记的敏感性。孟菲斯II比孟菲斯I或正常条带3更容易标记。据报道，孟菲斯II与Di（a）有关。在一项研究中，旨在确定的频率的DI *A /DI *B和166 A>G多态性在不同的人群在Brazils.Materials和方法，我们发现了一个新的DI *A等位基因，我们研究了70个亚马逊河流域的印第安人，71个人的日本血统，93个随机的巴西献血员和84个黑人镰状细胞病的DNA样本。对所有样品进行聚合酶链反应-限制性片段长度多态性（PCR-RFLP）分析，使用Msp I用于DI *A/DI *B（外显子19）和Mnl I用于166 A>G（外显子4）。结果在亚马逊河流域印第安人中，DI *A和166 G突变的频率均较高（分别为0.57和0.54）。在日本血统的个体中，这些等位基因的频率中等（分别为0.07和0.19）。我们在4名亚马逊印第安人中发现了一个新的等位基因，该等位基因带有DI *A和166 A（56 Lys）。它们还显示了测试一组不同人群的相关性。
Background and Objectives The blood-group antigens Di(a) and Di(b) are carried on erythrocyte band 3 and are defined by a single amino acid substitution at position 854 (Leu for Di(a) and Pro for Di(b) ). The Band 3-Memphis variant has a point mutation (166A>G) in the SLC4A1 gene, which encodes the amino acid substitution Lys56Glu. Two types of Band 3-Memphis, variants I and II, are distinguished by their susceptibility to covalent labelling with 4,4'-diisothiocyanato-1,2-diphenylethane-2,2'-disulphonic acid (H-2 DIDS). Memphis II is more readily labelled than Memphis I or normal band 3. It is reported that Memphis II is associated with Di(a) . In a study designed to determine the frequency of the DI *A /DI *B and 166A>G polymorphisms in different populations in Brazil, we found a new DI *A allele.Materials and Methods We studied DNA samples from 70 Amazonian Indians, 71 individuals of Japanese descent, 93 random Brazilian blood donors and 84 blacks with sickle cell disease. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analyses were performed on all samples, using Msp I for DI *A/DI *B (exon 19) and Mnl I for 166A>G (exon 4). Exon 4 and exon 19 from four outliers were sequenced.Results Among Amazonian Indians, DI *A and 166G mutations both had a high frequency (0.57 and 0.54, respectively). In individuals of Japanese descent, these alleles were moderately frequent (0.07 and 0.19, respectively). We identified a new allele with DI *A and 166A (56Lys) in four Amazonian Indians.Conclusions Our results revealed that DI *A does not have a strict association with 166G . They also show the relevance of testing a cohort of different populations.