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Organization of the ζ‐α genes in Chinese
Author(s) -
Chan Vivian,
Chan T. K.,
Cheng M. Y.,
Kan Y. W.,
Todd D.
Publication year - 1986
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.1365-2141.1986.tb07577.x
Subject(s) - gene , genetics , biology , population , medicine , environmental health
S ummary . Analysis of α and ζ genes in 101 healthy normals and hospitalized patients with non‐haematological diseases revealed a 3% incidence of α thalassaemia in the local Chinese population of Hong Kong. Triple α genes were found in only one person while triple ζ genes were more prevalent, occurring in 13 subjects. Studies of 28 unselected patients with Hb H disease indicated a predominance of the rightward χ gene deletion. The extent of α gene deletion in homozygous α thalassaemia 1 was at least 18.1 kb, beginning from the BamH I site 3’to the ζ 1 gene and includes the Φα, α 2 and α 1 genes. Nineteen of the 20 chromosomes bearing the α thalassaemia 1 deletion had identical ζ‐intergenic hypervariable region suggesting a common origin of this mutation. The co‐inheritance of α thalassaemia in β thalassaemia subjects was 8%, but did not ameliorate the clinical features of those with homozygous β thalassaemia