Beta-thalassemia major caused by compound heterozygosity for +40 to +43(-AAAC), IVS-2-654 (C to T) and codon 41/42 (-TCTT)

To report the analysis of a rare beta-thalassemia ternary heterozygote [+40 to +43(-AAAC)*CD41/42(-TTCT)*IVS-2-654] causing beta-thalassemia major in a Chinese. Using PCR-ASO probe hybridization analysis to scan 17 known types of beta-thalassemia mutations, and gene cloning and DNA sequencing to ide...

Full description

Saved in:
Bibliographic Details
Published inZhonghua yi xue yi chuan xue za zhi Vol. 25; no. 4; p. 418
Main Authors Hu, Zhao-hui, Liu, Yuan-li, Zeng, Zheng-yu, Zhang, Xiao-lu, Zhu, Qing-yi
Format Journal Article
LanguageChinese
Published China 01.08.2008
Subjects
beta-Thalassemia - genetics
Codon
DNA Mutational Analysis
Female
Genetic Carrier Screening
Haplotypes
Heterozygote
Humans
Mutation
Nucleic Acid Hybridization
Online AccessGet more information

Cover

More Information
Summary:To report the analysis of a rare beta-thalassemia ternary heterozygote [+40 to +43(-AAAC)*CD41/42(-TTCT)*IVS-2-654] causing beta-thalassemia major in a Chinese. Using PCR-ASO probe hybridization analysis to scan 17 known types of beta-thalassemia mutations, and gene cloning and DNA sequencing to identify the underlying causative mutation. Reverse dot blot (RDB) analysis showed that the patient's beta-globin gene had three mutations: +40 to +43(-AAAC), CD41/42(-TCTT) and IVS-2-654(C to T). Beta-globin gene cloning and sequencing proved that, the two deletions of +40 to +43(-AAAC) and CD41/42(-TCTT) co-existed on the same chromosome, and the other homologous chromosome had an IVS-2-654 (C to T) mutation. So the patient is a compound heterozygote of [+40 to +43(-AAAC)*CD41/42 (-TCTT)]/IVS-2-654 (C to T) leading to beta-thalassemia major. The triple mutation of [+40 to +43(-AAAC)*CD41/42(-TCTT)/N] is a new genotype of beta-thalassemia in Chinese.
ISSN:1003-9406