Diastrophic dysplasia gene maps to the distal long arm of chromosome 5

Journal Article · Mon Oct 01 00:00:00 EDT 1990 · Proceedings of the National Academy of Sciences of the United States of America; (United States)

DOI:https://doi.org/10.1073/pnas.87.20.8056· OSTI ID:5475814

Hastbacka, J; Kaitila, I; Sistonen, P; de la Chapelle, A ^[1]

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1. Univ. of Helsinki (Finland)

The authors have used polymorphic DNA markers to map the gene for a clinically well-characterized form of osteochondrodysplasia, diastrophic dysplasia (DD), an autosomal recessive disorder of unknown pathogenesis. Linkage was analyzed in 13 families with two or three affected sibs comprising a total of 84 individuals. Positive two-point logarithm-of-odds (lod) scores were obtained between the DD locus and three polymorphic markers on chromosome 5. The highest pairwise lod score estimate of 7.37 with zero recombination to locus D5S72 suggests very tight linkage. There was no evidence of heterogeneity. Multipoint linkage analysis against the published order of the three loci gave the result centromere-D5S84-(DD, D5S72)-D5S61-terminus with a four-point lod score of 9.11. The present findings place the DD locus distal to the gene for adenomatous polyposis coli on the distal part of the long arm of chromosome 5. Our results provide a basis for refining the map position of the DD locus followed by physical localization, isolation, and characterization of the gene.

• OSTI ID: 5475814
• Journal Information: Proceedings of the National Academy of Sciences of the United States of America; (United States), Vol. 87:20; ISSN 0027-8424
• Country of Publication: United States
• Language: English

Related Subjects

59 BASIC BIOLOGICAL SCIENCES
HUMAN CHROMOSOME 5
GENETIC MAPPING
SKELETAL DISEASES
PATHOGENESIS
BIOLOGICAL MARKERS
BONE TISSUES
DNA HYBRIDIZATION
HEREDITARY DISEASES
PATIENTS
PHOSPHORUS 32
RFLPS
ANIMAL TISSUES
BETA DECAY RADIOISOTOPES
BETA-MINUS DECAY RADIOISOTOPES
BODY
CHROMOSOMES
CONNECTIVE TISSUE
DAYS LIVING RADIOISOTOPES
DISEASES
HYBRIDIZATION
ISOTOPES
LIGHT NUCLEI
MAPPING
NUCLEI
ODD-ODD NUCLEI
PHOSPHORUS ISOTOPES
RADIOISOTOPES
TISSUES
550201* - Biochemistry- Tracer Techniques