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Article

Segregation of delta F508 and normal CFTR alleles in human sperm.

Human molecular genetics - 1 Apr 1993

Williams C, Davies D, Williamson R

Abstract excerpt

Single sperm typing provides an accurate method to order tightly linked loci by single cell DNA high resolution segregation analysis. We have used similar methods to type individual sperm from a known delta F508 cystic fibrosis heterozygote to determine the frequency of the mutation within his germ cell population, and to test possible explanations for the reported sex ratio distortion of the cystic fibrosis (CF)...

Topics

Alleles
Base Sequence
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
DNA
Female
Heterozygote
Humans
Male
Membrane Proteins
Molecular Sequence Data
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymerase Chain Reaction

Sex Ratio

Spermatozoa

X Chromosome

Y Chromosome

Source

Identifiers

PMID: 7684944
DOI: 10.1093/hmg/2.4.445

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7684944-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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