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Identification of two novel β°‐thalassemia mutations in a filipino family: Frameshift codon 67 (− TG) and a β‐globin gene deletion
Author(s) -
Eng Barry,
Chui David H. K.,
Saunderson Janet,
Olivieri Nancy F.,
Waye John S.
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.1380020509
Subject(s) - frameshift mutation , genetics , biology , thalassemia , allele , proband , point mutation , gene , mutation , compound heterozygosity , globin , population , microbiology and biotechnology , medicine , environmental health
The frequency of β‐thalassemia alleles among Filipinos is estimated to be 0.02, although little is known about the actual mutations represented in this population. Here, we describe a Filipino family in which a child has severe β‐thalassemia major. Molecular studies of the family revealed that the proband is a compound heterozygote for two previously unreported β°‐thalassemia alleles: a frameshift mutation ( − TG) at codon 67 and a deletion of the entire β‐globin gene. The 5′ endpoint of this novel deletion is located ∼3.9 kb to ∼4.3 kb upstream of β‐globin gene, and the deletion extends 3′ beyond the β‐globin gene for an undetermined distance. The occurrence of two novel β‐thalassemia alleles in a single family suggests that the Filipino population may have a unique spectrum of β‐thalassemia alleles. © 1993 Wiley‐Liss, Inc.