Refinement of the spinal muscular atrophy locus by genetic and physical mapping

C. H. Wang; P. W. Kleyn; E. Vitale; B. M. Ross; L. Lien; J. Xu; T. A. Carter; L. M. Brzustowicz; S. Obici; S. Selig; L. Pavone; E. Parano; G. K. Penchaszadeh; T. Munsat; L. M. Kunkel; T. Conard Gilliam

Refinement of the spinal muscular atrophy locus by genetic and physical mapping

C. H. Wang
, P. W. Kleyn
, E. Vitale
, B. M. Ross
, L. Lien
, J. Xu
, T. A. Carter
, L. M. Brzustowicz
, S. Obici
, S. Selig
, L. Pavone
, E. Parano
, G. K. Penchaszadeh
, T. Munsat
, L. M. Kunkel
, T. Conard Gilliam

Endocrinology and Metabolism

Columbia University
Harvard University
University of Catania
Tufts University

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

30 Scopus citations

Abstract

We report the mapping and characterization of 12 micro-satellite markers including 11 novel markers. All markers were generated from overlapping YAC clones that span the spinal muscular atrophy (SMA) locus. PCR amplification of 32 overlapping YAC clones shows that 9 of the new markers (those set in italics) map to the interval between the two previous closest flanking markers (D5S629 and D5S557): cen-D5S6-D5S125-D5S435-D5S1407-D5S629-D5S1410- D5S1411/D5S1412-D5S1413-D5S1414-D5Z8-D5Z9-CATT1-D5Z10/D5Z6-D5S557-D5S1408- D5S1409-D5S637-D5S351-MAP1B-tel. Four of these new markers detect multiple loci in and out of the SMA gene region. Genetic analysis of recombinant SMA families indicates that D5S1413 is a new proximal flanking locus for the SMA gene. Interestingly, among the 40 physically mapped loci, the 14 multilocus markers map contiguously to a genomic region that overlaps, and perhaps helps define, the minimum genetic region encompassing the SMA gene(s).

Original language	English
Pages (from-to)	202-209
Number of pages	8
Journal	American Journal of Human Genetics
Volume	56
Issue number	1
State	Published - 1995

Cite this

@article{a55e32bb023a46599c301438dfa2a08e,

title = "Refinement of the spinal muscular atrophy locus by genetic and physical mapping",

abstract = "We report the mapping and characterization of 12 micro-satellite markers including 11 novel markers. All markers were generated from overlapping YAC clones that span the spinal muscular atrophy (SMA) locus. PCR amplification of 32 overlapping YAC clones shows that 9 of the new markers (those set in italics) map to the interval between the two previous closest flanking markers (D5S629 and D5S557): cen-D5S6-D5S125-D5S435-D5S1407-D5S629-D5S1410- D5S1411/D5S1412-D5S1413-D5S1414-D5Z8-D5Z9-CATT1-D5Z10/D5Z6-D5S557-D5S1408- D5S1409-D5S637-D5S351-MAP1B-tel. Four of these new markers detect multiple loci in and out of the SMA gene region. Genetic analysis of recombinant SMA families indicates that D5S1413 is a new proximal flanking locus for the SMA gene. Interestingly, among the 40 physically mapped loci, the 14 multilocus markers map contiguously to a genomic region that overlaps, and perhaps helps define, the minimum genetic region encompassing the SMA gene(s).",

author = "Wang, \{C. H.\} and Kleyn, \{P. W.\} and E. Vitale and Ross, \{B. M.\} and L. Lien and J. Xu and Carter, \{T. A.\} and Brzustowicz, \{L. M.\} and S. Obici and S. Selig and L. Pavone and E. Parano and Penchaszadeh, \{G. K.\} and T. Munsat and Kunkel, \{L. M.\} and Gilliam, \{T. Conard\}",

year = "1995",

language = "English",

volume = "56",

pages = "202--209",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

number = "1",

}

TY - JOUR

T1 - Refinement of the spinal muscular atrophy locus by genetic and physical mapping

AU - Wang, C. H.

AU - Kleyn, P. W.

AU - Vitale, E.

AU - Ross, B. M.

AU - Lien, L.

AU - Xu, J.

AU - Carter, T. A.

AU - Brzustowicz, L. M.

AU - Obici, S.

AU - Selig, S.

AU - Pavone, L.

AU - Parano, E.

AU - Penchaszadeh, G. K.

AU - Munsat, T.

AU - Kunkel, L. M.

AU - Gilliam, T. Conard

PY - 1995

Y1 - 1995

N2 - We report the mapping and characterization of 12 micro-satellite markers including 11 novel markers. All markers were generated from overlapping YAC clones that span the spinal muscular atrophy (SMA) locus. PCR amplification of 32 overlapping YAC clones shows that 9 of the new markers (those set in italics) map to the interval between the two previous closest flanking markers (D5S629 and D5S557): cen-D5S6-D5S125-D5S435-D5S1407-D5S629-D5S1410- D5S1411/D5S1412-D5S1413-D5S1414-D5Z8-D5Z9-CATT1-D5Z10/D5Z6-D5S557-D5S1408- D5S1409-D5S637-D5S351-MAP1B-tel. Four of these new markers detect multiple loci in and out of the SMA gene region. Genetic analysis of recombinant SMA families indicates that D5S1413 is a new proximal flanking locus for the SMA gene. Interestingly, among the 40 physically mapped loci, the 14 multilocus markers map contiguously to a genomic region that overlaps, and perhaps helps define, the minimum genetic region encompassing the SMA gene(s).

AB - We report the mapping and characterization of 12 micro-satellite markers including 11 novel markers. All markers were generated from overlapping YAC clones that span the spinal muscular atrophy (SMA) locus. PCR amplification of 32 overlapping YAC clones shows that 9 of the new markers (those set in italics) map to the interval between the two previous closest flanking markers (D5S629 and D5S557): cen-D5S6-D5S125-D5S435-D5S1407-D5S629-D5S1410- D5S1411/D5S1412-D5S1413-D5S1414-D5Z8-D5Z9-CATT1-D5Z10/D5Z6-D5S557-D5S1408- D5S1409-D5S637-D5S351-MAP1B-tel. Four of these new markers detect multiple loci in and out of the SMA gene region. Genetic analysis of recombinant SMA families indicates that D5S1413 is a new proximal flanking locus for the SMA gene. Interestingly, among the 40 physically mapped loci, the 14 multilocus markers map contiguously to a genomic region that overlaps, and perhaps helps define, the minimum genetic region encompassing the SMA gene(s).

UR - https://www.scopus.com/pages/publications/0028831592

M3 - Article

C2 - 7825579

AN - SCOPUS:0028831592

SN - 0002-9297

VL - 56

SP - 202

EP - 209

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 1

ER -

Refinement of the spinal muscular atrophy locus by genetic and physical mapping

Abstract

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