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

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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

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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",

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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

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JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

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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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