Haplotype Analysis of Three Common β-Thalassemia Mutations in Syrian Patients

Autor:	Hossam Murad, Faten Moassas, Yasser Mukhalalaty, Ifad Ghoury
Rok vydání:	2018
Předmět:	0301 basic medicine Genetics Molecular Epidemiology Syria Thalassemia beta-Thalassemia Biochemistry (medical) Clinical Biochemistry Haplotype Hematology 030105 genetics & heredity Biology medicine.disease 03 medical and health sciences Haplotypes Case-Control Studies Mutation medicine Humans Genetics (clinical)
Zdroj:	Hemoglobin. 42:302-305
ISSN:	1532-432X 0363-0269
DOI:	10.1080/03630269.2018.1553789
Popis:	β-Globin haplotypes were used to investigate the origin of three common β-globin mutations, IVS-I-110 (GA); HBB: c.93-21GA, IVS-I-1 (GA); HBB: c.92 + 1GA and codon 39 (CT); HBB: c.118C T in Syrian patients. Haplotype analysis was done for 49 unrelated patients with β-thalassemia (β-thal) and 20 unrelated healthy subjects by polymerase chain reaction (PCR)-based restriction fragment length polymorphism (RFLP) for the β-globin gene cluster of the following polymorphic restriction sites: HincII 5' to ε, HindIII 5' to
Databáze:	OpenAIRE
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