The Hemoglobin O mutation in Indonesia: distribution and phenotypic expression
| Autor: | Ita M. Nainggolan, Sangkot Marzuki, Ruland Dn Pakasi, Sunar Tranggana, Dasril Daud, Alida Harahap, Iswari Setianingsih |
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| Rok vydání: | 2001 |
| Předmět: |
Male
Hemoglobins Abnormal Restriction Mapping Population Zoology Distribution (economics) Biology Asian People Ethnicity Genetics medicine Humans Hemoglobin O Indonesia education Phylogeny Genetics (clinical) DNA Primers Demography Malay education.field_of_study Base Sequence Reverse Transcriptase Polymerase Chain Reaction business.industry Genetic Carrier Screening medicine.disease language.human_language Globins Phenotype Hemoglobinopathy Amino Acid Substitution Hematocrit Indonesia Mutation Mutation (genetic algorithm) Erythrocyte Count language Amino acid change Female business Hemoglobin O Polymorphism Restriction Fragment Length |
| Zdroj: | Journal of Human Genetics. 46:499-505 |
| ISSN: | 1435-232X 1434-5161 |
| DOI: | 10.1007/s100380170030 |
| Popis: | We have investigated hemoglobin O Indonesia (HbOIna) in related ethnic populations of the Indonesian archipelago: 1725 individuals of the five ethnic populations of South Sulawesi (Bugis, Toraja, Makassar, Mandar, and Kajang) and 959 individuals of the neighboring islands, who were divided into five phylogenetic groups: (a) Batak; (b) Malay from Padang, Pakanbaru, and Palembang in the island of Sumatra; (c) Javanese-related populations (Java, Tengger, and Bali) from the islands of Java and Bali; (d) populations of the Lesser Sunda Islands of Lombok, Sumba, and Sumbawa; and (e) the Papuan-languagespeaking population of Alor Island. Nineteen individuals heterozygous for HbO(Ina) were identified from the Bugis, Toraja, Makassar, and Kajang ethnic populations, but none from the other populations. In all cases, the underlying mutation was found to be in codon 116 (GAG to AAG) of the alpha1-globin gene, resulting in the Glull6Lys amino acid change. The level of HbO in the 17 individuals plus 12 additional family members carrying the mutation was found to be 11.6 +/- 1.0%, significantly lower than the expected 17%-22%, indicating the instability of HbO. |
| Databáze: | OpenAIRE |
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