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Rapid molecular identification of a rare gene deletion & its clinical implication.

作者信息

Hariharan Priya, Sawant Pratibha, Sheth Jayesh, Nadkarni Anita

机构信息

Department of Haematogenetics, ICMR-National Institute of Immunohematology, K.E.M. Hospital Campus, Mumbai 400 012, Maharashtra, India.

Foundation for Research in Genetics and Endocrinology, Institute of Human Genetics, Satellite, Ahmedabad 380 015, Gujarat, India.

出版信息

Indian J Med Res. 2022 Mar;155(3&4):432-437. doi: 10.4103/ijmr.IJMR_4753_20.

DOI:10.4103/ijmr.IJMR_4753_20
PMID:36124516
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9707687/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2094/9707687/29d845973d9a/IJMR-155-432-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2094/9707687/5befe02786a9/IJMR-155-432-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2094/9707687/29d845973d9a/IJMR-155-432-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2094/9707687/5befe02786a9/IJMR-155-432-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2094/9707687/29d845973d9a/IJMR-155-432-g002.jpg

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本文引用的文献

1
The Changing Trends in Prenatal Diagnosis of Hemoglobinopathies in India: The Quest of a Single Center to Reduce the Burden of Disease over Three Decades.印度血红蛋白病产前诊断的变化趋势：一个单一中心在三十年里减轻疾病负担的探索。
Hemoglobin. 2021 Mar;45(2):112-118. doi: 10.1080/03630269.2021.1908346. Epub 2021 Apr 8.
2
Hemoglobin A (HbA) has a measure of unreliability in diagnosing β-thalassemia trait (β-TT).血红蛋白A（HbA）在诊断β地中海贫血特征（β-TT）方面存在一定的不可靠性。
Curr Med Res Opin. 2018 May;34(5):945-951. doi: 10.1080/03007995.2018.1435520. Epub 2018 Feb 15.
3
Characterization of Two Novel Deletions Involving the 5' Region of the β-Globin Gene.
涉及β-珠蛋白基因5'区域的两个新型缺失的特征分析
Hemoglobin. 2017 Jul-Nov;41(4-6):239-242. doi: 10.1080/03630269.2017.1397015. Epub 2017 Nov 28.
4
The molecular basis of β-thalassemia.β-地中海贫血的分子基础。
Cold Spring Harb Perspect Med. 2013 May 1;3(5):a011700. doi: 10.1101/cshperspect.a011700.
5
A novel deletion of β-globin promoter causing high HbA2 in an Indian population.在印度人群中发现一种新型β-珠蛋白启动子缺失导致高HbA2水平
Haematologica. 2012 Sep;97(9):1445-7. doi: 10.3324/haematol.2012.062299. Epub 2012 May 11.
6
Characterization of a novel deletion causing beta-thalassemia major in an Afghan family.一个阿富汗家庭中导致重型β地中海贫血的新型缺失的特征分析。
Hemoglobin. 2010;34(1):110-4. doi: 10.3109/03630260903554803.
7
Multiplex ligation-dependent probe amplification screening of isolated increased HbF levels revealed three cases of novel rearrangements/deletions in the beta-globin gene cluster.多重连接依赖探针扩增筛查孤立性 HbF 水平升高，发现 3 例β珠蛋白基因簇中新的重排/缺失。
Br J Haematol. 2010 Jan;148(1):154-60. doi: 10.1111/j.1365-2141.2009.07927.x. Epub 2009 Oct 5.
8
Two new beta-thalassemia deletions compromising prenatal diagnosis in an Italian and a Turkish couple seeking prevention.两例新的β地中海贫血缺失突变，给一对寻求预防措施的意大利夫妇和一对土耳其夫妇的产前诊断带来了困难。
Haematologica. 2009 Sep;94(9):1289-92. doi: 10.3324/haematol.2009.007989.
9
Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification.16p13.3和11p15.4区域的9种未知重排导致α和β地中海贫血，通过高分辨率多重连接依赖探针扩增进行表征。
J Med Genet. 2005 Dec;42(12):922-31. doi: 10.1136/jmg.2005.033597. Epub 2005 May 13.
10
A beta zero-thalassaemia due to a 1605 bp deletion of the 5' beta-globin gene region.
Br J Haematol. 1993 Sep;85(1):143-7. doi: 10.1111/j.1365-2141.1993.tb08657.x.