Mapping of the human bradikinin B2 receptor gene and GALC gene at 14q31-32.1, the region of the Machado Joseph disease locus
- Hospital for Sick Children, Toronto (Canada)
Bradykinin is a nine amino acid peptide liberated from the {alpha}2 globulin, kininogen, during inflammatory responses. Substantial evidence shows that bradikinin is involved in human inflammatory disorders. There are two types of kinin receptors: B1 and B2. The human bradikinin B2 receptor (BKRB2) gene was previously localized to chromosome 14 by somatic cell hybrids. Krabbe disease is an autosomal recessive disorder caused by deficiency of galactocerebrosidase (GALC). GALC has been previously localized to chromosome 14 at q31 by in situ hybridization. We have further defined the localization of the BKRB2 and GALC genes by physical and genetic linkage mapping. Primers were designed from the 3{prime} untranslated region of each gene. PCR was performed on human/rodent somatic cell hybrid carrying portions of chromosome 14, and on flow sorted chromosome DNA of patients with a deletion or translocation on chromosome 14. Results place the two genes between D14S48 and Pl, the same region as the Machado Joseph disease (MJD) gene. The genomic chromosome 14-specific cosmid library (DOE, Los Alamos) was screened using PCR products obtained from both sets of primers as probes. Positive clones for each gene were screened for di, tri and tetranucleotide repeats. A polymorphic CA repeat marker was obtained from the BKRB2 clones. CEPH families which show recombinants between D14S48 and Pl were typed with this marker and other published markers, which we have mapped in the region: D14S140, D14S68, D14S73, D14S67, D14S256 and D14S81. This positions BDRB2 more precisely and also provides an important map for further localization of the MJD gene.
- OSTI ID:
- 134087
- Report Number(s):
- CONF-941009-; ISSN 0002-9297; TRN: 95:005313-0823
- Journal Information:
- American Journal of Human Genetics, Vol. 55, Issue Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
- Country of Publication:
- United States
- Language:
- English
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Related Subjects
BASIC STUDIES
PATIENTS
HEREDITARY DISEASES
METABOLIC DISEASES
INFLAMMATION
HUMAN CHROMOSOME 14
GENETIC MAPPING
CHROMOSOMAL ABERRATIONS
GENES
RECEPTORS
BRADYKININ
SOMATIC CELLS
HYBRIDIZATION
RECESSIVE MUTATIONS
BIOLOGICAL MARKERS
AMINO ACIDS
PEPTIDES
POLYMERASE CHAIN REACTION
NUCLEOTIDES
PROBES
DNA-CLONING
DNA HYBRIDIZATION