Bhattacharyya Deboshree, Mukhopadhyay Ashis, Chakraborty Abhijit, Dasgupta Swati, Mukhopadhyay Soma, Pal Nabamita, Basak Jayasri
Department of Molecular Biology, Netaji Subhash Chandra Bose Cancer Research Institute, Kolkata, India.
Hemoglobin. 2013;37(1):26-36. doi: 10.3109/03630269.2012.746942. Epub 2012 Dec 7.
Toto is one of the smallest tribes in the world. This primitive sub Himalayan, endogamous tribe lives in a small, isolated village called Totopara in the Jalpaiguri district of West Bengal in India. The tribal communities of West Bengal are vulnerable to various genetic disorders such as β-thalassemia (β-thal). We have studied 443 Totos to define their Hb E [β26(B8)Glu→Lys, GAG>AAG] status. Awareness and screening camps have been organized in various parts of Totopara during the last 2 years. We collected 3 mL peripheral blood from each individual aseptically on which to use the naked eye single tube red cell osmotic fragility test (NESTROFT); complete hemogram and high performance liquid chromatography (HPLC) were done to detect their carrier status. The Hb E variant had been found to be prevalent among the Totos. To confirm the codon 26 (GAG>AAG) mutation in the β-globin gene, amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) was performed. Restriction fragment length polymorphism (RFLP)-PCR was carried out with 44 Hb E alleles to construct the haplotype(s) of the Totos. Our extensive studies have revealed that 49.21% of Totos are Hb E heterozygotes and 19.19% Totos are Hb E homozygotes. The most prevalent haplotype linked with the codon 26 mutation in the Totos is [+ - - - - -] (HincII 5'ϵ, HindIII (G)γ, HindIII (A)γ, HincII 5'ψβ, HincII 3'ψβ and HinfI 3'β). Consanguineous marriages have resulted in a significant increase of the percentages of heterozygotes and homozygotes of Hb E in the Totos. Genetic counseling is essential and important to prevent the spread of this mutation and hence to save them from having any kind of clinically significant hemoglobinopathy in the future.
托托族是世界上最小的部落之一。这个原始的喜马拉雅山山麓内婚制部落生活在印度西孟加拉邦贾尔派古里区一个名为托托帕拉的小而孤立的村庄里。西孟加拉邦的部落群体易患各种遗传性疾病，如β地中海贫血（β-地贫）。我们研究了443名托托族人，以确定他们的血红蛋白E [β26（B8）谷氨酸→赖氨酸，GAG> AAG]状态。在过去两年里，在托托帕拉的各个地方组织了宣传和筛查活动。我们从每个个体无菌采集3毫升外周血，用于肉眼单管红细胞渗透脆性试验（NESTROFT）；进行全血细胞计数和高效液相色谱（HPLC）检测他们的携带状态。已发现血红蛋白E变异体在托托族人中很普遍。为了确认β珠蛋白基因中的26号密码子（GAG> AAG）突变，进行了扩增阻滞突变系统-聚合酶链反应（ARMS-PCR）。用44个血红蛋白E等位基因进行限制性片段长度多态性（RFLP）-PCR，以构建托托族人的单倍型。我们广泛的研究表明，49.21%的托托族人是血红蛋白E杂合子，19.19%的托托族人是血红蛋白E纯合子。与托托族人26号密码子突变相关的最常见单倍型是[+ - - - - -]（HincII 5'ϵ、HindIII（G）γ、HindIII（A）γ、HincII 5'ψβ、HincII 3'ψβ和HinfI 3'β）。近亲结婚导致托托族人中血红蛋白E杂合子和纯合子的比例显著增加。遗传咨询对于防止这种突变的传播至关重要，从而使他们在未来避免患上任何具有临床意义的血红蛋白病。
