Literature DB >> 26114741

Novel 31.2 kb α0 Deletion in a Palestinian Family with α-Thalassemia.

Christian Brieghel1, Henrik Birgens, Henrik Frederiksen, Jens M Hertz, Maria Steenhof, Jesper Petersen.   

Abstract

A previously unknown α(0) deletion, designated - -(DANE), was found in three generations of a Danish family of Palestinian origin. Six patients were heterozygous and three patients had deletional Hb H (β4) disease with a compound heterozygosity for the common -α(3.7) (rightward) deletion. Multiplex ligation-dependent probe amplification (MLPA) supplemented by repeated polymerase chain reaction (PCR) amplification identified the 5' and 3' breakpoints in the α-globin gene cluster. This novel 31.2 kb deletion (NG_000006.1: g.8800_40007del31208) leads to the removal of the HBZ, HBA2 and HBA1 genes.

Entities:  

Keywords:  Hb H (β4); multiplex ligation-dependent probe amplification (MLPA); α-Globin gene cluster; α-thalassemia (α-thal) deletion; – –DANE

Mesh:

Substances:

Year:  2015        PMID: 26114741     DOI: 10.3109/03630269.2015.1054512

Source DB:  PubMed          Journal:  Hemoglobin        ISSN: 0363-0269            Impact factor:   0.849


  2 in total

1.  Detection of hemoglobin H disease by long molecule sequencing.

Authors:  Youqiong Li; Liang Liang; Ting Qin; Mao Tian
Journal:  J Clin Lab Anal       Date:  2022-09-04       Impact factor: 3.124

2.  Rare α0-thalassemia deletions detected by MLPA in five unrelated Brazilian patients.

Authors:  Natália O Mota; Elza M Kimura; Roberta D Ferreira; Gisele A Pedroso; Dulcinéia M Albuquerque; Daniela M Ribeiro; Magnun N N Santos; Cristina M Bittar; Fernando F Costa; Maria de Fatima Sonati
Journal:  Genet Mol Biol       Date:  2017-10-02       Impact factor: 1.771

  2 in total

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