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Article

Frequency of abnormal human haemoglobins caused by C----T transitions in CpG dinucleotides.

Bollettino della Societa italiana di biologia sperimentale - 1 Sept 1990

Perutz M F

Abstract excerpt

A large part of human genetic disease apparently arises from deamination of cytosines in methylated CpG dinucleotides. Their mutation rate is known to be high when C is present as 5-methyl-cytosine, but is believed to be normal when it is unmethylated. The beta-globin gene contains five, the gamma-globin gene two, and each of the alpha-globin genes contain 35 CpG's. The CpG's in the beta-and gamma-globin genes...

Topics

5-Methylcytosine
Cytosine
Deamination
Gene Frequency
Globins
Hemoglobins, Abnormal
Humans
Mutation

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 2073381

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2073381-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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