Pycnodysostosis: refined linkage and radiation hybrid analyses reduce the critical region to 2 cM at 1q21 and map two candidate genes.

doi:10.1007/s004390050177

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Article

Pycnodysostosis: refined linkage and radiation hybrid analyses reduce the critical region to 2 cM at 1q21 and map two candidate genes.

Human genetics - 1 Aug 1996

Gelb B D, Spencer E, Obad S, Edelson G J, Faure S, Weissenbach J, Desnick R J

Abstract excerpt

Pycnodysostosis (PKND) is a rare, autosomal recessive skeletal dysplasia, which has been mapped previously to a 4-cM interval between D1S442 to D1S305 at chromosome 1q21. Only D1S498 did not recombine with the disease locus in a large, consanguineous Arab family with PKND. In the present studies, five new Généthon markers (D1S2343, D1S2344, D1S2345, D1S2346, and D1S2347) were tested against DNA from this family...

Topics

Base Sequence
Chromosome Mapping
Chromosomes, Human, Pair 1
Consanguinity
DNA Primers
Dysostoses
Female
Genes, Recessive
Genetic Linkage
Genetic Markers
Genotype
Haplotypes
Humans
Hybrid Cells
Male
Molecular Sequence Data

Source

Open in PubMed

Identifiers

PMID: 8698329
DOI: 10.1007/s004390050177

Genes

MCL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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