Genetic mapping of the cleidocranial dysplasia (CCD) locus on chromosome band 6p21 to include a microdeletion

Journal Article · Mon Aug 28 00:00:00 EDT 1995 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320580222· OSTI ID:466724

Gelb, B D; Desnick, R J ^[1]; Shevell, M ^[2]

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1. Mount Sinai School of Medicine, New York, NY (United States)
2. McGill Univ., Montreal (Canada)

Cleidocranial dysplasia (CCD) is a generalized skeletal dysplasia with autosomal dominant inheritance. Recently, the CCD disease locus was localized to 23 and 17 cM regions of chromosome band 6p21 by linkage studies of seven affected families. Of note, the 23 cM region contained a microdeletion detected in one family at D6S459, an interval that was excluded in the 17 cM overlapping region. Here, linkage of CCD to 6p21 was independently confirmed with a maximal two-point LOD score of Z=5.12 with marker D6S452 at {theta}=0.00. Recombinant events in two affected individuals defined a CCD region of 7 cM from D6S465 to D6S282, which overlapped with the CCD region containing the microdeletion but did not overlap with the 17 cM critical region from D6S282 to D6S291. These results suggest the refined localization of the CCD region to 6 cM spanning markers D6S438 to D6S282, thereby reviving the possibility that the CCD gene lies within the microdeletion at D6S459. 13 refs., 2 figs., 1 tab.

• Sponsoring Organization: USDOE
• OSTI ID: 466724
• Journal Information: American Journal of Medical Genetics, Vol. 58, Issue 2; Other Information: PBD: 28 Aug 1995
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
GENES
GENE MUTATIONS
GENETIC MAPPING
GENE RECOMBINATION
PATIENTS
HEREDITARY DISEASES
SKELETAL DISEASES
RESOLUTION
L CODES
HUMAN CHROMOSOME 6
CHROMOSOMAL ABERRATIONS
SKELETON
CONGENITAL MALFORMATIONS
DOMINANT MUTATIONS
BIOLOGICAL MARKERS
STATISTICS
GENETICS
POLYMERASE CHAIN REACTION