Polymorphisms of three new microsatellite sites of the dystrophin gene

Genetics and Molecular Research

Volumn 10, Issue 2, 2011, Pages 744-751

  Sun, R F ^a   Zhu, Y S ^a,c   Feng, J L ^a   Tian, Z ^a   Kuang, W J ^a   Liu, Y ^a,b   Zhang, H B ^a   Li, S B ^a  

^a XI'AN JIAOTONG UNIVERSITY   (China)

^b INSTITUTE OF FORENSIC SCIENCE   (China)

^c Key Laboratory of Reproduction and Genetics of Ningxia Hui Autonomous Region   (China)

Author keywords

Duchenne muscular dystrophy; Dystrophin gene; Han population genetics; Microsatellite; Polymorphism

Indexed keywords

DYSTROPHIN;

ALLELE; ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; FEMALE; GENE FREQUENCY; GENE LOCATION; GENE LOCUS; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; LINKAGE ANALYSIS; MALE; MICROSATELLITE MARKER; NUCLEOTIDE SEQUENCE;

ALLELES; BASE SEQUENCE; DYSTROPHIN; FEMALE; GENETIC TESTING; GENETICS, POPULATION; GENOTYPE; HUMANS; MALE; MICROSATELLITE REPEATS; MOLECULAR DIAGNOSTIC TECHNIQUES; MOLECULAR SEQUENCE DATA; MUSCULAR DYSTROPHY, DUCHENNE; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; SEQUENCE ANALYSIS, DNA;

EID: 79955825438     PISSN: None     EISSN: 16765680     Source Type: Journal    
DOI: 10.4238/vol10-2gmr962     Document Type: Article

References (22)

1. Ambrosio CE, Fadel L, Gaiad TP, Martins DS, et al. (2009). Identification of three distinguishable phenotypes in Golden Retriever muscular dystrophy. Genet. Mol. Res. 8: 389-396.
2. Banks GB and Chamberlain JS (2008). The value of mammalian models for Duchenne muscular dystrophy in developing therapeutic strategies. Curr. Top. Dev. Biol. 84: 431-453.
3. Basak J, Dasgupta UB, Banerjee TK, Senapati AK, et al. (2006). Analysis of dystrophin gene deletions by multiplex PCR in eastern India. Neurol. India 54: 310-311.
4. Davies KE (1997). Challenges in Duchenne muscular dystrophy. Neuromuscul. Disord. 7: 482-486.
5. Den Dunnen JT, Grootscholten PM, Bakker E, Blonden LA, et al. (1989). Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications. Am. J. Hum. Genet. 45: 835-847.
6. Dubowitz V (2006). Enigmatic conflict of clinical and molecular diagnosis in Duchenne/Becker muscular dystrophy. Neuromuscul. Disord. 16: 865-866.
7. Gao Y and Li SB (2008). Effects of sample size on the observed number of allele of 9 STR loci with various genetic data. Yi Chuan 30: 313-320.
8. Giliberto F, Ferreiro V, Dalamon V, Surace E, et al. (2003). Direct deletion analysis in two Duchenne muscular dystrophy symptomatic females using polymorphic dinucleotide (CA)n loci within the dystrophin gene. J. Biochem. Mol. Biol. 36: 179-184.
9. Kimmel M and Chakraborty R (1996). Measures of variation at DNA repeat loci under a general stepwise mutation model. Theor. Popul. Biol. 50: 345-367.
10. Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, et al. (1987). Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 50: 509-517.
11. Lai KK, Lo IF, Tong TM, Cheng LY, et al. (2006). Detecting exon deletions and duplications of the DMD gene using multiplex ligation-dependent probe amplification (MLPA). Clin. Biochem. 39: 367-372.
12. Lai PS, Takeshima Y, Adachi K, Van Tran K, et al. (2002). Comparative study on deletions of the dystrophin gene in three Asian populations. J. Hum. Genet. 47: 552-555.
13. Li Q and Wan JM (2005). SSRHunter: development of a local searching software for SSR sites. Yi Chuan 27: 808-810.
14. Melis MA, Cau M, Muntoni F, Mateddu A, et al. (1998). Elevation of serum creatine kinase as the only manifestation of an intragenic deletion of the dystrophin gene in three unrelated families. Eur. J. Paediatr. Neurol. 2: 255-261.
15. Mendell JR, Buzin CH, Feng J, Yan J, et al. (2001). Diagnosis of Duchenne dystrophy by enhanced detection of small mutations. Neurology 57: 645-650.
16. Ribeiro Rodrigues EM, Leite FP, Hutz MH, Palha TJ, et al. (2008). A multiplex PCR for 11 X chromosome STR markers and population data from a Brazilian Amazon Region. Forensic Sci. Int. Genet. 2: 154-158.
17. Roberts RG, Gardner RJ and Bobrow M (1994). Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations. Hum. Mutat. 4: 1-11.
18. Sewry CA (2010). Muscular dystrophies: an update on pathology and diagnosis. Acta Neuropathol. 120: 343-358.
19. Sifringer M, Uhlenberg B, Lammel S, Hanke R, et al. (2004). Identification of transcripts from a subtraction library which might be responsible for the mild phenotype in an intrafamilially variable course of Duchenne muscular dystrophy. Hum. Genet. 114: 149-156.
20. Suminaga R, Takeshima Y, Adachi K, Yagi M, et al. (2002). A novel cryptic exon in intron 3 of the dystrophin gene was incorporated into dystrophin mRNA with a single nucleotide deletion in exon 5. J. Hum. Genet. 47: 196-201.
21. Walmsley GL, Arechavala-Gomeza V, Fernandez-Fuente M, Burke MM, et al. (2010). A Duchenne muscular dystrophy gene hot spot mutation in dystrophin-deficient Cavalier King Charles Spaniels is amenable to exon 51 skipping. PLoS One 5: e8647.
22. Yan J and Hou YP (2004). Exploring Novel STR Loci on Human Chromosome 21 for Forensic and Medical Genetics. Doctoral thesis, Sichuan University, Chengdu.