Why are some genetic diseases common? Distinguishing selection from other processes by molecular analysis of globin gene variants.

Journal article

Various processes (selection, mutation, migration and genetic drift) are known to determine the frequency of genetic disease in human populations, but so far it has proved almost impossible to decide to what extent each is responsible for the presence of a particular genetic disease. The techniques of gene and haplotype analysis offer new hope in addressing this issue, and we review relevant studies of three haemoglobinopathies: sickle cell anaemia, and alpha and beta thalassaemia. We show ho...

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Authors: Flint, J; Harding, R; Clegg, J; Boyce, A

• Publication status: Published
• Publisher: Springer-Verlag
• Journal: Human genetics
• Volume: 91
• Issue: 2
• Pages: 91-117
• Publication date: 1993-03-01
• DOI: 10.1007/bf00222709
• EISSN: 1432-1203
• ISSN: 0340-6717
• Language: English
• Keywords: Africa, Northern; Emigration and Immigration; alpha-Thalassemia; Hemoglobinopathies; Genetic Variation; Disease Susceptibility; Pacific Islands; Gene Frequency; beta-Thalassemia; Genetics, Population; Gene Conversion; Europe; Gene Deletion; Anemia, Sickle Cell; Haplotypes; Asia; Selection (Genetics); Malaria, Falciparum; Mutation; Humans; Hemoglobins, Abnormal