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Molecular characterisation of Vietnamese HPFH
Author(s) -
Motum Penelope I.,
Hamilton Tracey J.,
Lindeman Robert,
Le Huong,
Trent Ronald J.
Publication year - 1993
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.1380020305
Subject(s) - breakpoint , biology , genetics , locus (genetics) , fetal hemoglobin , gene , vietnamese , globin , thalassemia , microbiology and biotechnology , fetus , chromosomal translocation , pregnancy , linguistics , philosophy
A novel 30 kb deletion of the β‐globin gene cluster associated with the phenotype of hereditary persistence of fetal hemoglobin (HPFH) is described in two unrelated individuals of Vietnamese background. The Vietnamese GγAγ HPFH deletion has a unique 5′ breakpoint 3.5 kb downstream of the δ‐globin gene. The 3′ breakpoint lies approximately 8 kb upstream from the HPFH‐3 breakpoint (Henthorn et al., 1986) and in the region of the 3′ breakpoints of HPFH‐4 (Saglio et al., 1986), German and Belgian Gγ + (Aγδβ)°‐thalassemias (Anagnou et al., 1988; Losekoot et al., 1991). Char acterisation of the 3′ breakpoint in the present study has enabled more precise localisation of other deletion breakpoints at this locus. Further evidence is provided that the 3′ breakpoint region contains functionally important sequences and that the juxtaposition of these sequences to the γ‐globin genes is a significant factor in the increased fetal hemoglobin levels. © 1993 Wiley‐Liss, Inc.