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The differences in quantities of α2‐and α1‐globin gene variants in heterozygotes
Author(s) -
Molchanova T. P.,
Pobedimskaya D. D.,
Huisman T. H. J.
Publication year - 1994
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1994.tb05022.x
Subject(s) - alpha (finance) , loss of heterozygosity , heterozygote advantage , alpha globulin , microbiology and biotechnology , biology , gene , globin , genetics , polymerase chain reaction , dna , genotype , allele , medicine , construct validity , nursing , patient satisfaction
Summary. We have identified through sequencing of amplified DNA the mutations in the α2‐ and α1‐globin genes in 63 individuals with a heterozygosity for an α chain abnormal haemoglobin (Hb). Moreover, we developed a reverse transcription/polymerase chain reaction (RT/PCR) based procedure for the determination of the α2‐ and α1‐ mRNA ratio in normal individuals. The numbers of α2 and α1 variants were nearly the same. The average precentage of the abnormal Hb in heterozygotes with α2 mutations (23.5%) was slightly higher than that in heterozygotes with α mutations (19.7%) (stable Hbs only). These percentages correspond to a ratio of α2 to α1 of 1.19 to 1 at the protein level. Variations in the number of active α‐globin genes and in the stability of the variants (greatly) affected the percentages of the abnormal protein. The average ratio between the α2‐ and α1‐mRNAs in 12 normal individuals was 2.6–2.75 to 1, about as expected from published data. and 2.0 to 1 for two persons with an α‐thalassaemia‐2 (α‐thal‐2) (‐3.7 kb) heterozygosity. The high relative mRNA (α2) level which is about twice the relative level of the α2 protein suggests a less efficient translation of the α2‐mRNA.