Characterization of a highly polymorphic dinucleotide repeat 150 kb proximal to the fragile X site

G. J. Riggins; S. L. Sherman; B. A. Oostra; J. S. Sutcliffe; D. Feitell; D. L. Nelson; B. A. Van Oost; A. P.T. Smits; F. J. Ramos; E. Pfendner; D. P.A. Kuhl; C. T. Caskey; S. T. Warren

doi:10.1002/ajmg.1320430138

Characterization of a highly polymorphic dinucleotide repeat 150 kb proximal to the fragile X site

G. J. Riggins
, S. L. Sherman
, B. A. Oostra
, J. S. Sutcliffe
, D. Feitell
, D. L. Nelson
, B. A. Van Oost
, A. P.T. Smits
, F. J. Ramos
, E. Pfendner
, D. P.A. Kuhl
, C. T. Caskey
, S. T. Warren

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

53 Scopus citations

Abstract

Fragile X [fra(X)] syndrome is a frequently encountered form of mental retardation and is inherited as an X-linked semi-dominant trait with reduced penetrance. We report here the characterization of a highly polymorphic dinucleotide repeat, DXS 548, which is approximately 150 kb proximal to the fra(X) site and the associated FMR-1 gene. DXS 548 is tightly linked to the fra(X) syndrome locus (FRAXA) without recombination (LOD = 9.07 with q of 0) in selected families with crossovers between FRAXA and very closely linked flanking markers. This dinucleotide repeat could be useful in determining the parental origin of a new fra(X) mutations and evaluating the role of FMR-1 in X-linked non-specific mental retardation.

Original language	English (US)
Pages (from-to)	237-243
Number of pages	7
Journal	American Journal of Medical Genetics
Volume	43
Issue number	1-2
DOIs	https://doi.org/10.1002/ajmg.1320430138
State	Published - 1992
Externally published	Yes

Keywords

Fragile X
X-linked mental retardation
dinucleotide repeat
linkage

ASJC Scopus subject areas

Genetics(clinical)

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10.1002/ajmg.1320430138

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Riggins, G. J., Sherman, S. L., Oostra, B. A., Sutcliffe, J. S., Feitell, D., Nelson, D. L., Van Oost, B. A., Smits, A. P. T., Ramos, F. J., Pfendner, E., Kuhl, D. P. A., Caskey, C. T., & Warren, S. T. (1992). Characterization of a highly polymorphic dinucleotide repeat 150 kb proximal to the fragile X site. American Journal of Medical Genetics, 43(1-2), 237-243. https://doi.org/10.1002/ajmg.1320430138

Riggins, GJ, Sherman, SL, Oostra, BA, Sutcliffe, JS, Feitell, D, Nelson, DL, Van Oost, BA, Smits, APT, Ramos, FJ, Pfendner, E, Kuhl, DPA, Caskey, CT & Warren, ST 1992, 'Characterization of a highly polymorphic dinucleotide repeat 150 kb proximal to the fragile X site', American Journal of Medical Genetics, vol. 43, no. 1-2, pp. 237-243. https://doi.org/10.1002/ajmg.1320430138

@article{2308e88b7a9a45a3a49225d060263cdd,

title = "Characterization of a highly polymorphic dinucleotide repeat 150 kb proximal to the fragile X site",

abstract = "Fragile X [fra(X)] syndrome is a frequently encountered form of mental retardation and is inherited as an X-linked semi-dominant trait with reduced penetrance. We report here the characterization of a highly polymorphic dinucleotide repeat, DXS 548, which is approximately 150 kb proximal to the fra(X) site and the associated FMR-1 gene. DXS 548 is tightly linked to the fra(X) syndrome locus (FRAXA) without recombination (LOD = 9.07 with q of 0) in selected families with crossovers between FRAXA and very closely linked flanking markers. This dinucleotide repeat could be useful in determining the parental origin of a new fra(X) mutations and evaluating the role of FMR-1 in X-linked non-specific mental retardation.",

keywords = "Fragile X, X-linked mental retardation, dinucleotide repeat, linkage",

author = "Riggins, \{G. J.\} and Sherman, \{S. L.\} and Oostra, \{B. A.\} and Sutcliffe, \{J. S.\} and D. Feitell and Nelson, \{D. L.\} and \{Van Oost\}, \{B. A.\} and Smits, \{A. P.T.\} and Ramos, \{F. J.\} and E. Pfendner and Kuhl, \{D. P.A.\} and Caskey, \{C. T.\} and Warren, \{S. T.\}",

year = "1992",

doi = "10.1002/ajmg.1320430138",

language = "English (US)",

volume = "43",

pages = "237--243",

journal = "American Journal of Medical Genetics",

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publisher = "Wiley-Blackwell",

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TY - JOUR

T1 - Characterization of a highly polymorphic dinucleotide repeat 150 kb proximal to the fragile X site

AU - Riggins, G. J.

AU - Sherman, S. L.

AU - Oostra, B. A.

AU - Sutcliffe, J. S.

AU - Feitell, D.

AU - Nelson, D. L.

AU - Van Oost, B. A.

AU - Smits, A. P.T.

AU - Ramos, F. J.

AU - Pfendner, E.

AU - Kuhl, D. P.A.

AU - Caskey, C. T.

AU - Warren, S. T.

PY - 1992

Y1 - 1992

N2 - Fragile X [fra(X)] syndrome is a frequently encountered form of mental retardation and is inherited as an X-linked semi-dominant trait with reduced penetrance. We report here the characterization of a highly polymorphic dinucleotide repeat, DXS 548, which is approximately 150 kb proximal to the fra(X) site and the associated FMR-1 gene. DXS 548 is tightly linked to the fra(X) syndrome locus (FRAXA) without recombination (LOD = 9.07 with q of 0) in selected families with crossovers between FRAXA and very closely linked flanking markers. This dinucleotide repeat could be useful in determining the parental origin of a new fra(X) mutations and evaluating the role of FMR-1 in X-linked non-specific mental retardation.

AB - Fragile X [fra(X)] syndrome is a frequently encountered form of mental retardation and is inherited as an X-linked semi-dominant trait with reduced penetrance. We report here the characterization of a highly polymorphic dinucleotide repeat, DXS 548, which is approximately 150 kb proximal to the fra(X) site and the associated FMR-1 gene. DXS 548 is tightly linked to the fra(X) syndrome locus (FRAXA) without recombination (LOD = 9.07 with q of 0) in selected families with crossovers between FRAXA and very closely linked flanking markers. This dinucleotide repeat could be useful in determining the parental origin of a new fra(X) mutations and evaluating the role of FMR-1 in X-linked non-specific mental retardation.

KW - Fragile X

KW - X-linked mental retardation

KW - dinucleotide repeat

KW - linkage

UR - https://www.scopus.com/pages/publications/0026766989

UR - https://www.scopus.com/pages/publications/0026766989#tab=citedBy

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DO - 10.1002/ajmg.1320430138

M3 - Article

C2 - 1605197

AN - SCOPUS:0026766989

SN - 0148-7299

VL - 43

SP - 237

EP - 243

JO - American Journal of Medical Genetics

JF - American Journal of Medical Genetics

IS - 1-2

ER -

Characterization of a highly polymorphic dinucleotide repeat 150 kb proximal to the fragile X site

Abstract

Keywords

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