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Hemoglobin. 2017 Jul - Nov;41(4-6):243-247. doi: 10.1080/03630269.2017.1374968. Epub 2017 Nov 10.

Prenatal Diagnosis and Molecular Analysis of a Large Novel Deletion (- -JS) Causing α0-Thalassemia.

Author information

1
a Prenatal Diagnosis Center, The Third People's Hospital of Dongguan City , Guangdong Province , People's Republic of China.
2
b Yaneng BIOscience (Shenzhen) Co. Ltd. , Shenzhen , Guandong Province , People's Republic of China.
3
c School of Medicine , Guangxi University of Science and Technology , Liuzhou , Guangxi Zhuang Autonomous Region , People's Republic of China.

Abstract

α-Thalassemia (α-thal) is a very common single gene hereditary disease caused by large deletions or point mutations of the α-globin gene cluster in tropical and subtropical regions of the world. Here, we report for the first time, a novel large α-thal deletion in a Chinese family from Jiangsu Province, People's Republic of China (PRC), which removes almost the entire α2 and α1 genes from the α-globin gene cluster. Thus, it was named the Jiangsu deletion (- -JS) on the α-globin gene cluster causing α0-thal. Heterozygotes for this deletion showed an α-thal trait phenotype with reduced mean corpuscular volume (MCV) and mean corpuscular hemoglobin (Hb) (MCH) levels. The sequencing results showed that a 2538 bp deletion (NG_000006.1: g.35801_38338) existed in this novel genotype on the basis of -α4.2 (leftward), indicating a deletion of about 6.8 kb from the α-globin cluster. In addition, a 29 bp sequence was inserted into the deletion during the recombination events that led to this deletion. Through pedigree analysis, we knew that the proband inherited the novel allele from his mother.

KEYWORDS:

molecular analysis; prenatal diagnosis; α-Thalassemia (α-thal); – –JS deletion

PMID:
29124980
DOI:
10.1080/03630269.2017.1374968
[Indexed for MEDLINE]

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