Faculty Collaboration Database

Linkage mapping of D21S171 to the distal long arm of human chromosome 21 using a polymorphic (AC)n dinucleotide repeat. Hum Genet 1991 Aug;87(4):401-4

Date

08/01/1991

Pubmed ID

1879826

DOI

10.1007/BF00197156

Scopus ID

2-s2.0-0025880312 (requires institutional sign-in at Scopus site)   15 Citations

Abstract

An (AC)n repeat within the anonymous DNA sequence D21S171 was shown to be highly polymorphic in members of the 40 Centre d'Etude du Polymorphisme Humaine (CEPH) families. Ten different alleles at this marker locus were detected by electrophoresis on polyacrylamide gels of DNA amplified by the polymerase chain reaction (PCR) using primers flanking the (AC)n repeat. The observed heterozygosity was 66%. PCR amplification of DNA from somatic cell hybrids mapped D21S171 to human chromosome 21, and linkage analysis localized this marker close to the loci CD18, PFKL, D21S113 and D21S112 in chromosomal band 21q22.3. In CEPH family 12 a de novo allele has been observed in a maternally derived chromosome.

Author List

Petersen MB, Weber JL, Slaugenhaupt SA, Kwitek AE, McInnis MG, Chakravarti A, Antonarakis SE

Author

Anne E. Kwitek PhD Professor in the Physiology department at Medical College of Wisconsin

MESH terms used to index this publication - Major topics in bold

Autoradiography
Base Sequence
Chromosome Mapping
Chromosomes, Human, Pair 21
Female
Genetic Linkage
Genetic Markers
Genotype
Heterozygote
Humans
Male
Molecular Sequence Data
Pedigree
Polymerase Chain Reaction
Polymorphism, Genetic
Repetitive Sequences, Nucleic Acid