Spinal and bulbar muscular atrophy (SBMA): Somatic stability of an expanded CAG repeat in fetal tissues

Clinical Genetics

Volumn 54, Issue 2, 1998, Pages 148-151

  Jedele, Kerry Baldwin ^a   Wahl, Dagmar ^b   Chahrokh Zadeh, Soheyla ^a   Wirtz, Antje ^a   Murken, Jan ^a   Holinski Feder, Elke ^a,c  

^a UNIVERSITY OF MUNICH   (Germany)

^b Medical Geneticist   (Germany)

^c LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

Author keywords

Fetal; Spinal and bulbar muscular atrophy; Trinucleotide repeat

Indexed keywords

TRINUCLEOTIDE;

ADULT; ARTICLE; FEMALE; FETUS; GENETIC ANALYSIS; GENETIC STABILITY; HETEROZYGOTE; HUMAN; HUMAN TISSUE; INFORMED CONSENT; MALE; MOLECULAR GENETICS; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SPINAL MUSCULAR ATROPHY; TRINUCLEOTIDE REPEAT;

EID: 0031716861     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1998.tb03718.x     Document Type: Article

References (11)

1. Kennedy WR, Alter M, Sung JH. Progressive proximal spinal and bulbar muscular atrophy of late onset: a sex-linked recessive trait. Neurology 1968: 18: 671-680.
2. Biancalana V, Serville F, Pommier J, Julien J, Hanauer A, Mandel J. Moderate instability of the trinucleotide repeat in spino bulbar muscular atrophy. Hum Mol Genet 1992: 1: 255-258.
3. La Spada A, Wilson E, Lubahn D, Harding A, Fischbeck K. Androgen receptor gene mutations in X-linked spinal and muscular atrophy. Nature 1991: 352: 77-79.
4. Andrew SE, Goldberg YP, Hayden MR. Rethinking genotype and phenotype correlations in polyglutamine expansion disorders. Hum Mol Genet 1997: 6: 2005-2010.
5. Igarashi S, Tanno Y, Onodera O, Yamazaki M, Sato S, Ishikawa A, Miyatani N, Nagashima M, Ishikawa Y, Sahashi K, Ibi T, Miyatake T, Tsuji S. Strong correlation between the number of CAG repeats in androgen receptor genes and the clinical onset of features of spinal and bulbar muscular atrophy. Neurology 1992: 42: 2300-2302.
6. Watanabe M, Abe K, Aoki M, Yasuo K, Itoyama Y, Shoji M, Ikeda Y, lizuka T, Ikeda M, Shizuka M, Mizushima K, Hirai S. Mitotic and meiotic stability of the CAG repeat in the X-linked spinal and bulbar muscular atrophy gene. Clin Genet 1996: 50: 133-137.
7. Zhang L, Fischbeck K, Arnheim N. CAG repeat length variation in sperm from a patient with Kennedy's disease. Hum Mol Genet 1995: 4: 303-305.
8. Spiegel R, La Spada A, Kress W, Fischbeck K, Schmid W. Somatic stability of the expanded CAG trinucleotide repeat in X-linked spinal and bulbar muscular dystrophy. Hum Mutat 1996: 8: 32-37.
9. La Spada A, Roling D, Harding A, Warner C, Spiegel R, Hausmanowa-Petrusewicz I, Yee W-C, Fischbeck KH. Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy. Nat Genet 1992: 2: 301-304.
10. Tanaka F, Sobue G, Doyu M, Ito Y, Yamamoto M, Shimada N, Yamamoto K, Shimada N, Yamamoto K, Riku S, Hshizume Y, Mitsuma T. Differential pattern in tissue-specific somatic mosaicism of expanded CAG trinucleotide repeat in dentatorubral-pallidoluysian atrophy, Machado-Joseph disease, and X-linked recessive spinal and bulbar muscular atrophy. J Neurol Sci 1996: 135: 43-50.
11. Yapijakis C, Kapaki E, Boussiou M, Vassilopoulos D, Papageorgiou C. Prenatal diagnosis of X-linked spinal and bulbar muscular atrophy in a Greek family. Prenatal Diagn 1996: 16: 262-265.