基于聚合酶链反应（PCR）的菲律宾人（--(FIL)）和泰国人（--(THAI)）α地中海贫血-1缺失的诊断
PCR-based diagnosis of the Filipino (--(FIL)) and Thai (--(THAI)) alpha-thalassemia-1 deletions.
作者信息
Eng B, Patterson M, Borys S, Chui D H, Waye J S
机构信息
Provincial Hemoglobinopathy DNA Diagnostic Laboratory, McMaster University Medical Centre, Hamilton Health Sciences Corporation, Hamilton, Ontario, Canada.
出版信息
Am J Hematol. 2000 Jan;63(1):54-6. doi: 10.1002/(sici)1096-8652(200001)63:1<54::aid-ajh12>3.0.co;2-b.
In southeast Asia, the carrier frequency of two-gene alpha-thalassemia deletions is quite high, ranging from 4% to 14% depending on the population. The most common alpha-thalassemia-1 deletion is the so-called southeast Asian deletion (--(SEA)). In addition, a significant proportion of cases involve two other deletions, the Filipino (--(FIL)) and Thai (--(THAI)) deletions. In this report, we identify the deletion breakpoints for the (--(FIL)) and (--(THAI)) deletions, and describe PCR-based protocols for rapid and reliable DNA diagnosis of these deletions.
在东南亚，双基因α地中海贫血缺失的携带频率相当高，根据不同人群，其范围在4%至14%之间。最常见的α地中海贫血-1缺失是所谓的东南亚缺失（--(SEA)）。此外，相当一部分病例涉及另外两种缺失，即菲律宾缺失（--(FIL)）和泰国缺失（--(THAI)）。在本报告中，我们确定了（--(FIL)）和（--(THAI)）缺失的缺失断点，并描述了基于聚合酶链反应（PCR）的方案，用于对这些缺失进行快速且可靠的DNA诊断。
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