MAPPING THE FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY GENE IS COMPLICATED BY CHROMOSOME-4Q35 RECOMBINATION EVENTS

被引：63

作者：

WEIFFENBACH, B

DUBOIS, J

STORVICK, D

TAWIL, R

JACOBSEN, SJ

GILBERT, J

WIJMENGA, C

MENDELL, JR

WINOKUR, S

ALTHERR, MR

SCHULTZ, P

OLANDT, S

FRANTS, RR

PERICAKVANCE, M

GRIGGS, RC

机构：

[1] UNIV ROCHESTER,DEPT NEUROL,ROCHESTER,NY 14642

[2] UNIV CALIF SAN DIEGO,LA JOLLA,CA 92093

[3] DUKE UNIV,DEPT MED,DURHAM,NC 27710

[4] LEIDEN UNIV,DEPT HUMAN GENET,MGC,2300 RA LEIDEN,NETHERLANDS

[5] OHIO STATE UNIV,DEPT NEUROL,COLUMBUS,OH 43210

[6] UNIV CALIF IRVINE,DEPT BIOL CHEM,IRVINE,CA 92717

[7] LANL,CTR HUMAN GENOME STUDIES,LOS ALAMOS,NM 87545

[8] UNIV CALIF SAN DIEGO,DEPT NEUROSCI,LA JOLLA,CA 92093

来源：

NATURE GENETICS | 1993年 / 4卷 / 02期

关键词：

D O I：

10.1038/ng0693-165

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A gene responsible for facioscapulohumeral muscular dystrophy (FSHD) has been linked to polymorphisms on chromosome 4q35. Multipoint linkage analyses have placed this gene distal to all reported genetic markers on the chromosome. By using as a probe a clone isolated from a cosmid containing sequences related to a homeobox domain, de novo DNA rearrangements were reported in sporadic and familial cases of FSHD. Linkage analysis of an EcoRI polymorphism detected by this clone in twenty-four multigenerational FSHD families revealed recombinants between this marker and the disease with a recombination fraction of 0.05. Two families with apparent germline mosaicism were also identified.

引用

页码：165 / 169

页数：5

共 50 条

[41] GENETIC-MAPPING OF MYD, A POSSIBLE MOUSE MODEL FOR FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY
MILLS, KA
MATHEWS, KD
BUETOW, KH
SCHMALZEL, R
BAILEY, H
NICHOLS, W
NADEAU, JH
MURRAY, JC
AMERICAN JOURNAL OF HUMAN GENETICS, 1993, 53 (03) : 1046 - 1046
[42] Severe facioscapulohumeral muscular dystrophy (FSHD) case with a short 4q35 fragment
Dorobek, M
Lemmers, RJLF
van der Maarel, SM
NEUROMUSCULAR DISORDERS, 2003, 13 (7-8) : 633 - 633
[43] Clinical and histopathological heterogeneity in patients with 4q35 facioscapulohumeral muscular dystrophy (FSHD)
Wood-Allum, C
Brennan, P
Hewitt, M
Lowe, J
Tyfield, L
Wills, A
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 2004, 30 (02) : 188 - 191
[44] Atypical muscle biopsy findings in a patient with 4Q35 facioscapulohumeral muscular dystrophy
Wood-Allum, C
Brennan, P
Hewitt, M
Lowe, J
Tyfield, L
Wills, A
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2002, 73 (02): : 230 - 230
[45] Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD)
Deidda, G
Cacurri, S
Piazzo, N
Felicetti, L
JOURNAL OF MEDICAL GENETICS, 1996, 33 (05) : 361 - 365
[46] Patients with facioscapulohumeral muscular dystrophy-like phenotype not linked to 4q35
Leonardis, L.
Zidar, J.
NEUROMUSCULAR DISORDERS, 2009, 19 (8-9) : 650 - 650
[47] Facioscapulohumeral muscular dystrophy: atypical phenotype in patients with large 4q35 deletions
Trevisan, C. P.
Pastorello, E.
Angelini, C.
Tomelleri, G.
Palmucci, L.
Siciliano, G.
Bruno, C.
Comacchio, F.
JOURNAL OF NEUROLOGY, 2008, 255 : 146 - 146
[48] MAPPING OF 4 TRANSLOCATION BREAKPOINTS WITHIN THE DUCHENNE MUSCULAR-DYSTROPHY GENE
BODRUG, SE
BURGHES, AHM
RAY, PM
WORTON, RG
GENOMICS, 1989, 4 (01) : 101 - 104
[49] 4q35 linked autosomal dominant facioscapuloperoneal muscular dystrophy is probably an independent form but is not a variant of facioscapulohumeral muscular dystrophy
Kazakov, Valery
Rudenko, Dmitry
Pozdnyakov, Alexander
Kolynin, Vladislav
NEUROMUSCULAR DISORDERS, 2006, 16 : S70 - S70
[50] PHYSICAL MAPPING EVIDENCE FOR A DUPLICATED REGION ON CHROMOSOME 10QTER SHOWING HIGH HOMOLOGY WITH THE FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY LOCUS ON CHROMOSOME 4QTER
DEIDDA, G
CACURRI, S
GRISANTI, P
VIGNETI, E
PIAZZO, N
FELICETTI, L
EUROPEAN JOURNAL OF HUMAN GENETICS, 1995, 3 (03) : 155 - 167

← 1 2 3 4 5 →