Studies of β-Thalassemia Mutations in Families Living in Three Provinces in Southern China

Abstract

beta-Thalassemia is a common disease in Southern China and 10 different mutations or frameshifts are responsible for most types of beta-thalassemia in this area. We studied 126 chromosomes of 80 beta-thalassemia patients from the Guangxi, Guangdong, and Sichuan Provinces using the polymerase chain reaction followed by dot-blot hybridization with specific oligonucleotide probes. The most common mutation in the three provinces is the frameshift at codons 41-42, followed by the A----T mutation at codon 17. The A----G mutation at nt -29 of the promoter is common in Sichuan but not in the other two provinces. Three mutations (T----C at nt -30; G----T at IVS-I-1, and G----C at IVS-I-5) were not observed. These data were used to initiate a prenatal diagnosis program using the same techniques for identification. Eleven fetuses at risk for beta-thalassemia have been diagnosed.

Molecular diagnosis of patients with β-thalassemia major in central Taiwan by amplified created restriction site analysis

“…However, in our study, the allele frequency of the C to T substitution at nucleotide 654 of IVS-2 and frameshift codons 41/42 (ϪTCTT) are similar and are two of the most common mutations found in central Taiwan, followed by the codon 17 (A → T) mutation. The incidence of the nonsense codon 17 mutation in Guangxi and Sichuan provinces of mainland China is higher than the incidence of the IVS-2 nucleotide 654 and Ϫ28 mutations, but this characteristic is not shown in Guangdong province or in regions in northern and southern Taiwan, according to Liu et al (1989) and our results. The A to G substitution at position Ϫ29 in the promoter area is rare in Sichuan province and even rarer in Guangdong and Guangxi provinces and central Taiwan.…”

“…In southern China, the distribution of mutations in the -globin gene differs even within the three neighboring provinces of Guangdong, Guangxi, and Sichuan (Liu et al 1989). This may be due to the large number of ethnic groups in this area.…”

Efficacy of Deferasirox for the treatment of iron overload in Chinese thalassaemia major patients: results from a prospective, open‐label, multicentre clinical trial

“…Hence, thalassaemia is one of the most common hereditary diseases in China and there are an estimated 47·78 million thalassaemia carriers within the country (Li et al , ). The most common mutations amongst Chinese thalassaemia major (TM) patients are codon 41–42 frameshifts, codon 17 nonsense mutations, IVS‐II‐654 mutations, substitutions at TATA box −28bp and nucleotide insertions between codons 71 and 72 (Zeng & Huang, ; Liu et al , ). The frequency of co‐existing beta‐ and alpha‐thalassaemia in China was reported to be between 5·1 and 9·1% depending on the geographic region within China (Chong et al , ).…”

The human factor IX gene as germline mutagen test: Samples from mainland China have the putatively endogenous pattern of mutation

“…1). Blood samples were drawn into citrate buffer tubes and DNA was extracted [Liu et al, 1989]. Patient DNA was shipped to the United States at ambient temperature in either TE buffer or ethanol.…”