Restriction endonuclease mapping of γ-δ-β-globin region in Gγ(β)+HPFH and a Chinese AγHPFH variant

M FARQUHAR; R GELINAS; B TATSIS; J MURRAY; M YAGI; R MUELLER; G STAMATOYANNOPOULOS

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Restriction endonuclease mapping of γ-δ-β-globin region in Gγ(β)+HPFH and a Chinese AγHPFH variant

Journal article

Peer reviewed

Restriction endonuclease mapping of γ-δ-β-globin region in Gγ(β)+HPFH and a Chinese AγHPFH variant

M FARQUHAR, R GELINAS, B TATSIS, J MURRAY, M YAGI, R MUELLER and G STAMATOYANNOPOULOS

American journal of human genetics, Vol.35(4), pp.611-620

1983

PMCID: PMC1685734

PMID: 6192712

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Abstract

Restriction endonuclease mapping of the beta-globin genomic region was used for studying the molecular basis of two variants of hereditary persistence of fetal hemoglobin (HPFH): an African G gamma (beta)+ HPFH and a Chinese HPFH variant with predominant synthesis of A gamma chains. HPFH and control DNA samples were digested with a battery of restriction enzymes, and the fragments were identified by hybridization to a family of discrete probes. DNA fragments from the A gamma HPFH (Chinese) and the G gamma (beta)+ HPFH individuals were identical with those of the normal controls. These findings suggest that the two mutants are the result of small structural anomalies of DNA sequences that play a role in the regulation of the expression of gamma-globin genes.

Molecular Genetics

Fundamental and applied biological sciences. Psychology

Biological and medical sciences

Molecular and cellular biology

Genes. Genome

Details

Title: Subtitle: Restriction endonuclease mapping of γ-δ-β-globin region in Gγ(β)+HPFH and a Chinese AγHPFH variant
Creators: M FARQUHAR - Univ. Washington, div. medical genetics
R GELINAS - Univ. Washington, div. medical genetics
B TATSIS - Univ. Washington, div. medical genetics
J MURRAY - Univ. Washington, div. medical genetics
M YAGI - Univ. Washington, div. medical genetics
R MUELLER - Univ. Washington, div. medical genetics
G STAMATOYANNOPOULOS - Univ. Washington, div. medical genetics
Resource Type: Journal article
Publication Details: American journal of human genetics, Vol.35(4), pp.611-620
PMID: 6192712
PMCID: PMC1685734
NLM abbreviation: Am J Hum Genet
ISSN: 0002-9297
eISSN: 1537-6605
Publisher: University of Chicago Press; Chicago, IL
Language: English
Date published: 1983
Academic Unit: Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research
Record Identifier: 9984025588502771

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