Linkage mapping of D21S171 to the distal long arm of human chromosome 21 using a polymorphic (AC)n dinucleotide repeat

Michael B. Petersen; James L. Weber; Susan A. Slaugenhaupt; Anne E. Kwitek; Melvin G. McInnis; Aravinda Chakravarti; Stylianos E. Antonarakis

doi:10.1007/BF00197156

Linkage mapping of D21S171 to the distal long arm of human chromosome 21 using a polymorphic (AC)_n dinucleotide repeat

Michael B. Petersen, James L. Weber, Susan A. Slaugenhaupt, Anne E. Kwitek, Melvin G. McInnis, Aravinda Chakravarti, Stylianos E. Antonarakis

Research output: Contribution to journal › Article › peer-review

12 Scopus 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 Humain (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.

Original language	English (US)
Pages (from-to)	401-404
Number of pages	4
Journal	Human genetics
Volume	87
Issue number	4
DOIs	https://doi.org/10.1007/BF00197156
State	Published - Aug 1991
Externally published	Yes

ASJC Scopus subject areas

Genetics
Genetics(clinical)

Access to Document

10.1007/BF00197156

Cite this

@article{d9876ce4958c4da2978fa61b1723a52f,

title = "Linkage mapping of D21S171 to the distal long arm of human chromosome 21 using a polymorphic (AC)n dinucleotide repeat",

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 Humain (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 = "Petersen, {Michael B.} and Weber, {James L.} and Slaugenhaupt, {Susan A.} and Kwitek, {Anne E.} and McInnis, {Melvin G.} and Aravinda Chakravarti and Antonarakis, {Stylianos E.}",

year = "1991",

month = aug,

doi = "10.1007/BF00197156",

language = "English (US)",

volume = "87",

pages = "401--404",

journal = "Human Genetics",

issn = "0340-6717",

publisher = "Springer Verlag",

number = "4",

}

TY - JOUR

T1 - Linkage mapping of D21S171 to the distal long arm of human chromosome 21 using a polymorphic (AC)n dinucleotide repeat

AU - Petersen, Michael B.

AU - Weber, James L.

AU - Slaugenhaupt, Susan A.

AU - Kwitek, Anne E.

AU - McInnis, Melvin G.

AU - Chakravarti, Aravinda

AU - Antonarakis, Stylianos E.

PY - 1991/8

Y1 - 1991/8

N2 - 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 Humain (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.

AB - 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 Humain (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.

UR - http://www.scopus.com/inward/record.url?scp=0025880312&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0025880312&partnerID=8YFLogxK

U2 - 10.1007/BF00197156

DO - 10.1007/BF00197156

M3 - Article

C2 - 1879826

AN - SCOPUS:0025880312

SN - 0340-6717

VL - 87

SP - 401

EP - 404

JO - Human Genetics

JF - Human Genetics

IS - 4

ER -

Linkage mapping of D21S171 to the distal long arm of human chromosome 21 using a polymorphic (AC)_n dinucleotide repeat

Abstract

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this