Literature DB >> 1879826

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

M B Petersen1, J L Weber, S A Slaugenhaupt, A E Kwitek, M G McInnis, A Chakravarti, S E Antonarakis.   

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.

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Year:  1991        PMID： 1879826     DOI： 10.1007/bf00197156

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  20 in total

1.  A genetic linkage map of 27 markers on human chromosome 21.

Authors:  M B Petersen; S A Slaugenhaupt; J G Lewis; A C Warren; A Chakravarti; S E Antonarakis
Journal:  Genomics       Date:  1991-03       Impact factor: 5.736

2.  Use of short sequence repeat DNA polymorphisms after PCR amplification to detect the parental origin of the additional chromosome 21 in Down syndrome.

Authors:  M B Petersen; A A Schinzel; F Binkert; L Tranebjaerg; M Mikkelsen; F A Collins; E P Economou; S E Antonarakis
Journal:  Am J Hum Genet       Date:  1991-01       Impact factor: 11.025

3.  Dinucleotide repeat polymorphism located at D21S120.

Authors:  M Burmelster; D R Cox; R M Myers
Journal:  Nucleic Acids Res       Date:  1990-08-25       Impact factor: 16.971

4.  Linkage mapping of the highly informative DNA marker D21S156 to human chromosome 21 using a polymorphic GT dinucleotide repeat.

Authors:  J G Lewis; J L Weber; M B Petersen; S A Slaugenhaupt; A Kwitek; P E May; A C Warren; A Chakravarti; S E Antonarakis
Journal:  Genomics       Date:  1990-10       Impact factor: 5.736

5.  Centre d'etude du polymorphisme humain (CEPH): collaborative genetic mapping of the human genome.

Authors:  J Dausset; H Cann; D Cohen; M Lathrop; J M Lalouel; R White
Journal:  Genomics       Date:  1990-03       Impact factor: 5.736

6.  Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia.

Authors:  R K Saiki; S Scharf; F Faloona; K B Mullis; G T Horn; H A Erlich; N Arnheim
Journal:  Science       Date:  1985-12-20       Impact factor: 47.728

7.  Buffer gradient gels and 35S label as an aid to rapid DNA sequence determination.

Authors:  M D Biggin; T J Gibson; G F Hong
Journal:  Proc Natl Acad Sci U S A       Date:  1983-07       Impact factor: 11.205

8.  A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene.

Authors:  M Litt; J A Luty
Journal:  Am J Hum Genet       Date:  1989-03       Impact factor: 11.025

9.  The polydeoxyadenylate tract of Alu repetitive elements is polymorphic in the human genome.

Authors:  E P Economou; A W Bergen; A C Warren; S E Antonarakis
Journal:  Proc Natl Acad Sci U S A       Date:  1990-04       Impact factor: 11.205

10.  Informativeness of human (dC-dA)n.(dG-dT)n polymorphisms.

Authors:  J L Weber
Journal:  Genomics       Date:  1990-08       Impact factor: 5.736
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  5 in total

1.  Comparative study of microsatellite and cytogenetic markers for detecting the origin of the nondisjoined chromosome 21 in Down syndrome.

Authors:  M B Peterson; M Frantzen; S E Antonarakis; A C Warren; C Van Broeckhoven; A Chakravarti; T K Cox; C Lund; B Olsen; H Poulsen
Journal:  Am J Hum Genet       Date:  1992-09       Impact factor: 11.025

2.  A large, dominant pedigree of atrioventricular septal defect (AVSD): exclusion from the Down syndrome critical region on chromosome 21.

Authors:  L Wilson; A Curtis; J R Korenberg; R D Schipper; L Allan; G Chenevix-Trench; A Stephenson; J Goodship; J Burn
Journal:  Am J Hum Genet       Date:  1993-12       Impact factor: 11.025

3.  Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration.

Authors:  A Hirvasniemi; H Lang; A E Lehesjoki; J Leisti
Journal:  J Med Genet       Date:  1994-03       Impact factor: 6.318

4.  Cytogenetic, FISH and DNA studies in 11 individuals from a family with two siblings with dup(21q) Down syndrome.

Authors:  O Bartsch; U König; M B Petersen; H Poulsen; M Mikkelsen; F Palau; F Prieto; E Schwinger
Journal:  Hum Genet       Date:  1993-09       Impact factor: 4.132

5.  PME of Unverricht-Lundborg type in the Mediterranean region: linkage and linkage disequilibrium confirm the assignment to the EPM1 locus.

Authors:  A E Lehesjoki; C A Tassinari; G Avanzini; R Michelucci; S Franceschetti; A Antonelli; G Rubboli; A de la Chapelle
Journal:  Hum Genet       Date:  1994-06       Impact factor: 4.132
  5 in total

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