Characterization of new PCR based markers for mapping and diagnosis: AC dinucleotide repeat markers at the DXS237 (GMGX9) and DXS102 (cX38.1) loci

A. K. Gedeon, K. Holman, R. I. Richards, J. C. Mulley

Research output: Contribution to journalArticle

14 Citations (Scopus)

Abstract

Genomic insert DNAs from 45 probes representing 113.4 kb of the X chromosome were screened for AC dinucleotide repeat sequence. Two new AC repeat sequences were identified with length polymorphism based on variation in repeat copy number. One at DXS237 exhibits 44% heterozygosity and is potentially useful for rapid diagnosis and mapping of X-linked disorders in Xp22.3. The other, at DXS102 in Xq26, has 71% heterozygosity. This marker will improve accuracy of diagnoses by linkage for families with Borjeson- Forssman-Lehmann syndrome. Review of the literature has identified 31 PCR based markers on the X chromosome, with minimum heterozygosity of 50%, applicable to the mapping and diagnosis of X-linked disorders.

Original languageEnglish
Pages (from-to)255-260
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume43
Issue number1-2
DOIs
Publication statusPublished - 1 Jun 1992
Externally publishedYes

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Dinucleotide Repeats
X Chromosome
Polymerase Chain Reaction
DNA Probes

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title = "Characterization of new PCR based markers for mapping and diagnosis: AC dinucleotide repeat markers at the DXS237 (GMGX9) and DXS102 (cX38.1) loci",
abstract = "Genomic insert DNAs from 45 probes representing 113.4 kb of the X chromosome were screened for AC dinucleotide repeat sequence. Two new AC repeat sequences were identified with length polymorphism based on variation in repeat copy number. One at DXS237 exhibits 44{\%} heterozygosity and is potentially useful for rapid diagnosis and mapping of X-linked disorders in Xp22.3. The other, at DXS102 in Xq26, has 71{\%} heterozygosity. This marker will improve accuracy of diagnoses by linkage for families with Borjeson- Forssman-Lehmann syndrome. Review of the literature has identified 31 PCR based markers on the X chromosome, with minimum heterozygosity of 50{\%}, applicable to the mapping and diagnosis of X-linked disorders.",
keywords = "Dinucleotide repeat, DXS102, DXS237, gene mapping",
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Characterization of new PCR based markers for mapping and diagnosis : AC dinucleotide repeat markers at the DXS237 (GMGX9) and DXS102 (cX38.1) loci. / Gedeon, A. K.; Holman, K.; Richards, R. I.; Mulley, J. C.

In: American Journal of Medical Genetics, Vol. 43, No. 1-2, 01.06.1992, p. 255-260.

Research output: Contribution to journalArticle

TY - JOUR

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T2 - AC dinucleotide repeat markers at the DXS237 (GMGX9) and DXS102 (cX38.1) loci

AU - Gedeon, A. K.

AU - Holman, K.

AU - Richards, R. I.

AU - Mulley, J. C.

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AB - Genomic insert DNAs from 45 probes representing 113.4 kb of the X chromosome were screened for AC dinucleotide repeat sequence. Two new AC repeat sequences were identified with length polymorphism based on variation in repeat copy number. One at DXS237 exhibits 44% heterozygosity and is potentially useful for rapid diagnosis and mapping of X-linked disorders in Xp22.3. The other, at DXS102 in Xq26, has 71% heterozygosity. This marker will improve accuracy of diagnoses by linkage for families with Borjeson- Forssman-Lehmann syndrome. Review of the literature has identified 31 PCR based markers on the X chromosome, with minimum heterozygosity of 50%, applicable to the mapping and diagnosis of X-linked disorders.

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