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Alpha thalassemia genotypes in Kuwait.
BMC Medical Genetics Pub Date : 2020-08-24 , DOI: 10.1186/s12881-020-01105-y
Adekunle Adekile 1 , Jalaja Sukumaran 1 , Diana Thomas 1 , Thomas D'Souza 1 , Mohammad Haider 1
Affiliation  

The frequency of the alpha thalassemia trait is approximately 40% in the Kuwaiti population, but there has been no comprehensive study of the prevalent alleles. This is a report of patients who were referred for molecular diagnosis over a 20-year period. This is a retrospective study of the α-globin genotypes obtained in the Hemoglobin Research Laboratory of the Department of Pediatrics, Kuwait University from 1994 to 2015. Genotyping was performed by a combination of PCR, allele-specific oligonucleotide hybridization and reverse dot blot hybridization (Vienna Lab Strip Assay). Four hundred samples were characterized and analyzed from individuals aged < 1 month to 80 years, with a median of 6 years from 283 unrelated families. Most (90.8%) were Kuwaiti nationals. The commonest genotype was homozygosity for the polyadenylation-1 mutation (αPA-1α/α PA-1α) in 33.3% of the samples, followed by heterozygosity (αα/α PA-1α) for the same mutation in 32.3%. PA-1 was therefore the most frequent allele (0.59). The frequency of the α0 (−-MED) allele was 0.017. Rare alleles that were found in very low frequencies included α0 (−-FIL) in a Filipino child, Hb Constant Spring, Hb Adana, and Hb Icaria. There is a wide variety of alpha thalassemia alleles among Kuwaitis, but nondeletional PA-1 is by far the most common cause of the moderate to severe HbH (β4 tetramer) disease phenotype. The α0 (−MED) allele is also encountered, which has implications for premarital counseling, especially for the possibility of having babies with alpha thalassemia major (Barts hydrops fetalis).

中文翻译:

科威特的α地中海贫血基因型。

在科威特人群中,α地中海贫血性状的频率约为40%,但尚未对流行的等位基因进行全面研究。这是一份为期20年的转诊进行分子诊断的患者的报告。这是对1994年至2015年在科威特大学儿科系血红蛋白研究实验室获得的α-珠蛋白基因型的回顾性研究。基因分型是通过PCR,等位基因特异性寡核苷酸杂交和反向斑点杂交(维也纳实验室试纸分析)。对年龄<1个月至80岁的个人进行了400份样品的表征和分析,其中283个无关家庭的平均年龄为6岁。大多数(90.8%)是科威特国民。最常见的基因型是33.3%的样本中多聚腺苷酸-1突变(αPA-1α/αPA-1α)的纯合度,其次是32.3%的相同突变的杂合度(αα/αPA-1α)。因此,PA-1是最常见的等位基因(0.59)。α0(--MED)等位基因的频率为0.017。在极低频率中发现的稀有等位基因包括菲律宾儿童中的α0(--FIL),Hb Constant Spring,Hb Adana和Hb Icaria。科威特人中存在多种α地中海贫血等位基因,但非缺失PA-1是迄今为止中度至重度HbH(β4四聚体)疾病表型的最常见原因。还遇到了α0(-MED)等位基因,这对婚前咨询具有重要意义,尤其是对于可能患有重度α地中海贫血的婴儿(胎儿Barts hydrops fetalis)的可能性。其次是相同突变的杂合性(αα/αPA-1α),占32.3%。因此,PA-1是最常见的等位基因(0.59)。α0(--MED)等位基因的频率为0.017。在极低频率中发现的稀有等位基因包括菲律宾儿童中的α0(--FIL),Hb Constant Spring,Hb Adana和Hb Icaria。科威特人中存在多种α地中海贫血等位基因,但非缺失PA-1是迄今为止中度至重度HbH(β4四聚体)疾病表型的最常见原因。还遇到了α0(-MED)等位基因,这对婚前咨询具有重要意义,尤其是对于可能患有重度α地中海贫血的婴儿(胎儿Barts hydrops fetalis)的可能性。其次是相同突变的杂合性(αα/αPA-1α),占32.3%。因此,PA-1是最常见的等位基因(0.59)。α0(--MED)等位基因的频率为0.017。在极低频率中发现的稀有等位基因包括菲律宾儿童中的α0(--FIL),Hb Constant Spring,Hb Adana和Hb Icaria。科威特人中存在多种α地中海贫血等位基因,但非缺失PA-1是迄今为止中度至重度HbH(β4四聚体)疾病表型的最常见原因。还遇到了α0(-MED)等位基因,这对婚前咨询具有重要意义,特别是对于有重度α地中海贫血的婴儿(胎儿Barts hydrops fetalis)的可能性。在极低频率中发现的稀有等位基因包括菲律宾儿童中的α0(--FIL),Hb Constant Spring,Hb Adana和Hb Icaria。科威特人中存在多种α地中海贫血等位基因,但非缺失PA-1是迄今为止中度至重度HbH(β4四聚体)疾病表型的最常见原因。还遇到了α0(-MED)等位基因,这对婚前咨询具有重要意义,尤其是对于可能患有重度α地中海贫血的婴儿(胎儿Barts hydrops fetalis)的可能性。在极低频率中发现的稀有等位基因包括菲律宾儿童中的α0(--FIL),Hb Constant Spring,Hb Adana和Hb Icaria。科威特人中存在多种α地中海贫血等位基因,但非缺失PA-1是迄今为止中度至重度HbH(β4四聚体)疾病表型的最常见原因。还遇到了α0(-MED)等位基因,这对婚前咨询具有重要意义,尤其是对于可能患有重度α地中海贫血的婴儿(胎儿Barts hydrops fetalis)的可能性。
更新日期:2020-08-24
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