Identification of a 1q32.3-q42.1 duplication using chromosome microdissection generated painting probes
- Univ. of Alabama, Birmingham, AL (United States); and others
One major challenge to clinical cytogeneticists is to identify the chromosomal origin of marker chromosomes. Chromosome microdissection-PCR (CMPCR) is a powerful tool that provides a critical link between cytogenetics and molecular genetics. This technique has been used for both molecular cloning and gene mapping. We report the application of an efficient CMPCR method for the study of a patient with a marker chromosome. A seven-month-old Caucasian female with physical features of truncal hypotonia, small atrial septal defect and tiny, deep-set nails was found to have a de novo insertion into the long arm of chromosome 1. The inserted material was microdissected and amplified with PCR using a high genomic frequency primer (SM1). A computer program was developed to aid the design of the primer. About 10 Mb of human DNA sequence in GenBank{sup TM} was studied for the appearance frequencies of the 4096 possible hexamers. The distribution of hexamers in the human genome was found to be highly nonrandom. The genomic frequency of the most frequent hexamer can be 140 times higher than that of the least frequent one. The hexamer (GAGGAG) at the 3{prime} end of the SM1 primer has a relatively high genomic frequency of 0.000918, which in theory should provide an annealing site for SM1 in every 1089 bp/strand. The SM1 primed PCR product from the microdissected chromosome was labeled with Biotin and used as probe for fluorescence in situ hybridization (FISH). The FISH result indicated that the 1q{sup +} marker included a duplication of 1q32.3-q42.1.
- OSTI ID:
- 133690
- Report Number(s):
- CONF-941009-; ISSN 0002-9297; TRN: 95:005313-0420
- 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
99 MATHEMATICS
COMPUTERS
INFORMATION SCIENCE
MANAGEMENT
LAW
MISCELLANEOUS
HUMAN CHROMOSOME 1
CHROMOSOMAL ABERRATIONS
GENETIC MAPPING
DNA-CLONING
DIAGNOSTIC TECHNIQUES
COMPUTER CODES
INFANTS
CONGENITAL MALFORMATIONS
PHENOTYPE
FLUORESCENCE
DNA HYBRIDIZATION
PROBES
POLYMERASE CHAIN REACTION
DNA SEQUENCING