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Detection and characterisation of β-globin gene cluster deletions in Chinese using multiplex ligationdependent probe amplification

机译:利用多重连接依赖性探针扩增检测和表征中国人β-珠蛋白基因簇缺失

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摘要

Background: Deletions in the β-globin cluster causing thalassaemia and hereditary persistence of fetal haemoglobin (HPFH) are uncommon and difficult to detect. Data in Chinese are very scarce. Aims: To use a recently available technique to investigate the frequencies and nature of β-globin cluster deletions in Chinese. Methods: 106 subjects with phenotypes of thalassaemia or HPFH and suspected to have deletions in the β-globin cluster were studied. A commercially available kit employing multiplex ligation-dependent probe amplification (MLPA) was used to screen for deletions. Gap PCR and direct nucleotide sequencing were used to characterise deletions detected. Results: 17 deletions in the β-globin cluster were found in 17 patients: 8 of Chinese (Aγδβ)0 thalassaemia, 7 of Southeast Asian (Vietnamese) deletion and 2 of Thai (Aγδβ) 0 thalassaemia. The only type of deletion detected in δβ-thalassaemia was Chinese (Aγδβ) 0 thalassaemia. The deletional form of HPFH was rarely seen in only 1 case of Thai (Aγδβ)0 thalassaemia. Deletions presenting as β-thalassaemia trait and raised HbF were all of the Southeast Asian (Vietnamese) deletion type. When these deletions were co-inherited with classical β-thalassaemia mutations in compound heterozygous states, the phenotypes could be very variable. Conclusions: In the Chinese population, there are only relatively few types of deletions seen in the β-globin cluster. MLPA is a fast and effective way of screening for these deletions. Characterisation of these deletions allows the development of simpler and more specific PCR-based tests for routine diagnostic use. Accurate prediction of phenotype is not always feasible. The molecular defects in many cases of HPFH still await discovery.
机译:背景:β-珠蛋白簇的缺失会导致地中海贫血和胎儿血红蛋白(HPFH)的遗传持久性,这种情况并不常见且难以检测。中文数据非常稀缺。目的:使用一种最新的技术来研究汉语中β-珠蛋白簇缺失的频率和性质。方法:研究了106例地中海贫血或HPFH表型的受试者,并怀疑其β-珠蛋白簇缺失。使用使用多重连接依赖性探针扩增(MLPA)的可商购试剂盒来筛选缺失。间隙PCR和直接核苷酸测序用于表征检测到的缺失。结果:在17例患者中发现了β-珠蛋白簇中的17个缺失:中国(Aγδβ)0地中海贫血8例,东南亚(越南)地中海贫血7例,泰国(Aγδβ)0地中海贫血2例。在δβ地中海贫血中检测到的唯一缺失类型是中国(Aγδβ)0地中海贫血。仅在1例泰国(Aγδβ)0地中海贫血病例中很少见到HPFH的缺失形式。表现为β地中海贫血特征和升高的HbF的缺失均为东南亚(越南)缺失类型。当这些缺失与复合杂合状态下的经典β地中海贫血突变共同遗传时,表型可能会非常不同。结论:在中国人群中,β-珠蛋白簇中仅有相对较少的缺失类型。 MLPA是筛查这些缺失的快速有效方法。这些缺失的特征允许开发用于常规诊断的更简单,更具体的基于PCR的测试。表型的准确预测并不总是可行的。在HPFH的许多情况下,分子缺陷仍在等待发现。

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