Molecular Spectrum of α- and β-Globin Gene Mutations Detected in the Population of Guangxi Zhuang Autonomous Region, People's Republic of China
| Autor: | Juan Du, Chen-Guang Zheng, Ze Yang, Ke Chen, Ming Liu, Yi-Ge Yang |
|---|---|
| Rok vydání: | 2011 |
| Předmět: |
China
Genotype Anemia Thalassemia Clinical Biochemistry Population beta-Globins Biology Gene mutation medicine.disease_cause Risk Assessment Severity of Illness Index Gene Frequency alpha-Globins alpha-Thalassemia medicine Humans Point Mutation Allele Codon education Alleles Genetic Association Studies Genetics (clinical) Genetics education.field_of_study Mutation Hematologic Tests beta-Thalassemia Biochemistry (medical) Hematology Odds ratio medicine.disease Population Surveillance |
| Zdroj: | Hemoglobin. 35:28-39 |
| ISSN: | 1532-432X 0363-0269 |
| Popis: | We studied 6,023 individuals diagnosed with anemia on the basis of hematological examinations. The study showed that the frequency of α-thalassemia (α-thal) carriers was 26.9% and β-thal carriers comprised 19.9% of the population of Guangxi Zhuang Autonomous Region, People's Republic of China (PCR). The diagnosed α-thal anomalies were related to six gene mutations and 16 genotypes, whereas the β-thal were related to 10 gene mutations and 65 genotypes. The four most common mutations [codons 41/42 (-TTCT), codon 17 (AT), -28 (AG) and IVS-II-654 (CT)] accounted for 86.38% of the β-globin gene mutations. Risk analysis of mutation alleles in thalassemia cases identified four mutations (-α(3.7), -α(4.2), αα(Westmead) and αα(CS)) that were associated with α-thal intermedia, with an odds ratio (OR) of 62.41-32.68. Four high-risk mutations, namely, codon 26 (GA), -28, codons 41/42 and codon 17, were associated with β-thal major (β-TM), with an OR of 3.93-2.20. The present study provides important genetic information on thalassemia in this population. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
| Nepřihlášeným uživatelům se plný text nezobrazuje | K zobrazení výsledku je třeba se přihlásit. |