哥伦比亚非裔人群中Duffy和血红蛋白S基因的遗传变异

4区生物学 Q2 Medicine

Human Biology Pub Date : 2018-11-01 DOI:10.13110/humanbiology.90.4.02

D. C. Ortega, H. Cárdenas, G. Barreto

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引用次数: 2

摘要

疟疾是哥伦比亚大部分地区的一种地方病，布埃纳文图拉市是疟疾感染率最高的城市之一。一些遗传变异赋予了对疟疾的抵抗力，例如血红蛋白S (HbS)的杂合子和Duffy基因的纯合子变体FYBES/FYBES。这项工作的目的是在布埃纳文图拉城市地区的非洲后裔人群中对这些基因进行分子表征。对该城市12个社区的819名个体进行分层随机抽样分析。采用PCR-RFLP进行分子分析，数据分析采用Arlequin 3.5、SPSS 20.0和R 3.4.1。S和FYBES等位基因的频率分别为3.1%和72.2%，其中AS杂合基因型为6.1%，FYBES/FYBES纯合基因型为55%。耐药基因型(AA*FYBES/FYBES基因型组合)比例最高的是13 ~ 27岁年龄组(8.2%)和社区1和社区3(分别为18%和10.3%)。因此，在布埃纳文图拉市市区开展流行病学研究和疟疾预防和保健运动时，应考虑到其余的社区和年龄组。

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Genetic Variants of Duffy and Hemoglobin S Genes in an Afrodescendant Population from Colombia

abstract Malaria is an endemic disease in a large part of Colombia, and the city of Buenaventura reports one of the highest malaria infection rates. Some genetic variants confer resistance to malaria, such as the heterozygote for hemoglobin S (HbS) and the homozygous variant FYBES/FYBES of the Duffy gene. The aim of this work was the molecular characterization of these genes in an Afrodescendant population from the urban area of Buenaventura. A total of 819 individuals from a stratified random sampling in each of the 12 communities of this city were analyzed. Molecular analysis was performed using PCR-RFLP, and data analysis was performed using Arlequin 3.5, SPSS 20.0, and R 3.4.1. Frequencies of 3.1% and 72.2% were obtained for the S and FYBES alleles, respectively, with 6.1% AS heterozygous and 55% FYBES/FYBES homozygous genotypes. The highest percentages of the resistant genotype (genotypic combination AA*FYBES/FYBES) were found for the 13–27-year age group (8.2%) and communities 1 and 3 (18% and 10.3%, respectively). Therefore, it would be pertinent to consider the remaining communities and age groups when performing epidemiological studies and preventive and health care campaigns on malaria in the urban areas of the city of Buenaventura.

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来源期刊

Human Biology 生物-生物学

CiteScore

1.90

自引率

0.00%

发文量

审稿时长

>12 weeks

期刊介绍： Human Biology publishes original scientific articles, brief communications, letters to the editor, and review articles on the general topic of biological anthropology. Our main focus is understanding human biological variation and human evolution through a broad range of approaches. We encourage investigators to submit any study on human biological diversity presented from an evolutionary or adaptive perspective. Priority will be given to interdisciplinary studies that seek to better explain the interaction between cultural processes and biological processes in our evolution. Methodological papers are also encouraged. Any computational approach intended to summarize cultural variation is encouraged. Studies that are essentially descriptive or concern only a limited geographic area are acceptable only when they have a wider relevance to understanding human biological variation. Manuscripts may cover any of the following disciplines, once the anthropological focus is apparent: human population genetics, evolutionary and genetic demography, quantitative genetics, evolutionary biology, ancient DNA studies, biological diversity interpreted in terms of adaptation (biometry, physical anthropology), and interdisciplinary research linking biological and cultural diversity (inferred from linguistic variability, ethnological diversity, archaeological evidence, etc.).