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Association of the α‐spectrin R28H mutation with allele α LELY and with αI/αII domain haplotypes in three Brazilian families
Author(s) -
Bassères Daniela S.,
Bordin Silvana,
Costa Fernando F.,
Saad Sara T. O.
Publication year - 2000
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1034/j.1600-0609.2000.80217.x
Subject(s) - haplotype , genetics , allele , biology , mutation , mutant , gene
We have studied three Brazilian kindreds presenting spectrin αI/74 hereditary elliptocytosis (HE) due to a G→A substitution, responsible for the R28H mutation. The mutant allele was associated with αI domain haplotype 1 (XbaI − /MspI − /PvuII + ) in all three families and with two different αII domain haplotypes (1/RIT, 4/RVR). This result may reflect that this mutation occurs in a “hot spot” and may have arisen more than once or that a crossing over event may have occurred between the two domains studied. We detected one new haplotype in the αI domain (haplotype 3 – XbaI + /MspI − /PvuII + ). The mutant allele was associated with the lack of the αII domain Alu insertion in all three cases. Allele α LELY , detected by PCR and restriction enzyme digestion, was present in the heterozygous form in patient 1 (α HE /α LELY ) and in the homozygous form in patients 2 and 3 (α HE‐LELY /α LELY ). It was found to be associated with αII domain haplotypes 1 (RIT) and 4 (RVR) and with the presence and absence of the Alu insertion. This may have arisen through recombination events, since this polymorphism is located in the αIV–αV domain junction, which is far distant from the αII domain.