Localization of the achondroplasia gene to the distal 2. 5 MB of human chromosome 4p

Clalr A. Francomano; Rosa I.Ortiz De Luna; Timothy W. Hefferon; Gary A. Bellus; Caria E. Turner; Eugene Taylor; Deborah A. Meyers; Susan Halloran Blanton; Jeffrey C. Murray; Lain Mclntosh; Jacqueline T. Hecht

doi:10.1093/hmg/3.5.787

Localization of the achondroplasia gene to the distal 2. 5 MB of human chromosome 4p

Clalr A. Francomano
, Rosa I.Ortiz De Luna
, Timothy W. Hefferon
, Gary A. Bellus
, Caria E. Turner
, Eugene Taylor
, Deborah A. Meyers
, Susan Halloran Blanton
, Jeffrey C. Murray
, Lain Mclntosh
, Jacqueline T. Hecht

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

75 Scopus citations

Abstract

Achondroplasia has been mapped to 4p16. 3 using 18 multigeneratlonal families with achondroplasia and 10 short tandem repeat polymorphic markers from this region. No evidence of genetic heterogeneity was found. Analysis of a recombinant family localizes the achondroplasia locus to the 2. 5 Mb region between D4S43 and the telomere. Multipoint linkage analysis favors placement telomerlc of D4S412. The establishment of closely linked markers will facilitate positional cloning of the achondroplasia gene and permit prenatal diagnosis of homozygous achondroplasia for at risk couples.

Original language	English (US)
Pages (from-to)	787-792
Number of pages	6
Journal	Human molecular genetics
Volume	3
Issue number	5
DOIs	https://doi.org/10.1093/hmg/3.5.787
State	Published - May 1994
Externally published	Yes

ASJC Scopus subject areas

Molecular Biology
Genetics
Genetics(clinical)

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10.1093/hmg/3.5.787

Cite this

@article{eed96444d6134e59aa479ad00956592d,

title = "Localization of the achondroplasia gene to the distal 2. 5 MB of human chromosome 4p",

abstract = "Achondroplasia has been mapped to 4p16. 3 using 18 multigeneratlonal families with achondroplasia and 10 short tandem repeat polymorphic markers from this region. No evidence of genetic heterogeneity was found. Analysis of a recombinant family localizes the achondroplasia locus to the 2. 5 Mb region between D4S43 and the telomere. Multipoint linkage analysis favors placement telomerlc of D4S412. The establishment of closely linked markers will facilitate positional cloning of the achondroplasia gene and permit prenatal diagnosis of homozygous achondroplasia for at risk couples.",

author = "Francomano, \{Clalr A.\} and \{De Luna\}, \{Rosa I.Ortiz\} and Hefferon, \{Timothy W.\} and Bellus, \{Gary A.\} and Turner, \{Caria E.\} and Eugene Taylor and Meyers, \{Deborah A.\} and Blanton, \{Susan Halloran\} and Murray, \{Jeffrey C.\} and Lain Mclntosh and Hecht, \{Jacqueline T.\}",

note = "Funding Information: The authors wish to thank Drs. D.H.Cohn, F.S.Collins, H.C.Dietz, W.A.Horton, and D.A.Tagle for critical review of this manuscript and helpful discussion, and Drs. J.M.Graham, Jr., R.E.Pyeritz, and D.H.Cohn for contributing families for analysis . This work was supported by N.I.H. grants RO1AR41135 and PO1HG00373 and the Simon Family (C.A.F.). RIOL is supported by the Patrons of the Hospital Infantil de Mexico, Federico Gomez. G.A.B. and C.E.T. are supported by N.I.H. training grants. Patients were seen in the General Clinical Research Centers of the Johns Hopkins University School of Medicine, including the CXnpatiem Clinical Research Center (MOl RR00722) and the Pediatric Clinical Research Center (MO1RR00052).",

year = "1994",

month = may,

doi = "10.1093/hmg/3.5.787",

language = "English (US)",

volume = "3",

pages = "787--792",

journal = "Human molecular genetics",

issn = "0964-6906",

publisher = "Oxford University Press",

number = "5",

}

TY - JOUR

T1 - Localization of the achondroplasia gene to the distal 2. 5 MB of human chromosome 4p

AU - Francomano, Clalr A.

AU - De Luna, Rosa I.Ortiz

AU - Hefferon, Timothy W.

AU - Bellus, Gary A.

AU - Turner, Caria E.

AU - Taylor, Eugene

AU - Meyers, Deborah A.

AU - Blanton, Susan Halloran

AU - Murray, Jeffrey C.

AU - Mclntosh, Lain

AU - Hecht, Jacqueline T.

N1 - Funding Information: The authors wish to thank Drs. D.H.Cohn, F.S.Collins, H.C.Dietz, W.A.Horton, and D.A.Tagle for critical review of this manuscript and helpful discussion, and Drs. J.M.Graham, Jr., R.E.Pyeritz, and D.H.Cohn for contributing families for analysis . This work was supported by N.I.H. grants RO1AR41135 and PO1HG00373 and the Simon Family (C.A.F.). RIOL is supported by the Patrons of the Hospital Infantil de Mexico, Federico Gomez. G.A.B. and C.E.T. are supported by N.I.H. training grants. Patients were seen in the General Clinical Research Centers of the Johns Hopkins University School of Medicine, including the CXnpatiem Clinical Research Center (MOl RR00722) and the Pediatric Clinical Research Center (MO1RR00052).

PY - 1994/5

Y1 - 1994/5

N2 - Achondroplasia has been mapped to 4p16. 3 using 18 multigeneratlonal families with achondroplasia and 10 short tandem repeat polymorphic markers from this region. No evidence of genetic heterogeneity was found. Analysis of a recombinant family localizes the achondroplasia locus to the 2. 5 Mb region between D4S43 and the telomere. Multipoint linkage analysis favors placement telomerlc of D4S412. The establishment of closely linked markers will facilitate positional cloning of the achondroplasia gene and permit prenatal diagnosis of homozygous achondroplasia for at risk couples.

AB - Achondroplasia has been mapped to 4p16. 3 using 18 multigeneratlonal families with achondroplasia and 10 short tandem repeat polymorphic markers from this region. No evidence of genetic heterogeneity was found. Analysis of a recombinant family localizes the achondroplasia locus to the 2. 5 Mb region between D4S43 and the telomere. Multipoint linkage analysis favors placement telomerlc of D4S412. The establishment of closely linked markers will facilitate positional cloning of the achondroplasia gene and permit prenatal diagnosis of homozygous achondroplasia for at risk couples.

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AN - SCOPUS:0028300064

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JO - Human molecular genetics

JF - Human molecular genetics

IS - 5

ER -

Localization of the achondroplasia gene to the distal 2. 5 MB of human chromosome 4p

Abstract

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