Preimplantation genetic diagnosis for myotonic dystrophy type 1: Detection of crossover between the gene and the linked marker APOC2

Prenatal Diagnosis

Volumn 27, Issue 2, 2007, Pages 111-116

  Kakourou, Georgia ^a   Dhanjal, Seema ^a   Daphnis, Danny ^a   Doshi, Alpesh ^b   Nuttall, Sarah ^b   Gotts, Sarah ^b   Serhal, Paul ^b   Delhanty, Joy ^a   Harper, Joyce ^a   SenGupta, Sioban ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Crossover; Linked marker; Myotonic dystrophy type I; PCR; PGD

Indexed keywords

MYOTONIC DYSTROPHY PROTEIN KINASE;

ALLELE; ARTICLE; BIOPSY; BLASTOMERE; CASE REPORT; CHROMOSOME 9; FEMALE; FERTILIZATION IN VITRO; GENE MUTATION; HORMONAL REGULATION; HUMAN; INFERTILITY THERAPY; INTRACYTOPLASMIC SPERM INJECTION; MYOTONIC DYSTROPHY; MYOTONIC DYSTROPHY TYPE 1; OOCYTE; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SHORT TANDEM REPEAT;

ADULT; APOLIPOPROTEIN C-II; BIOPSY; CROSSING OVER, GENETIC; FEMALE; FERTILIZATION IN VITRO; GENETIC MARKERS; GENETIC SCREENING; HUMANS; LINKAGE (GENETICS); MALE; MYOTONIC DYSTROPHY; OOCYTES; POLYMERASE CHAIN REACTION; PREGNANCY; PREIMPLANTATION DIAGNOSIS; PROTEIN-SERINE-THREONINE KINASES;

EID: 33847133831     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.1611     Document Type: Article

References (18)

1. Amiel J, Raclin V, Jouannic JM, et al. 2001. Trinucleotide repeat contraction: a pitfall in prenatal diagnosis of myotonic dystrophy. J Med Genet 38: 850-852.
2. Brook JD, McCurrach ME, Harley HG, et al. 1992. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 68: 799-808.
3. Cleary JD, Pearson CE. 2003. The contribution of cis-elements to disease-associated repeat instability: clinical and experimental evidence. Cytogenet Genome Res 100: 25-55.
4. De Temmerman N, Sermon K, Seneca S, et al. 2004. Intergenerational instability of the expanded CTG repeat in the DMPK gene: studies in human gametes and preimplantation embryos. Am J Hum Genet 75: 325-329.
5. Die-Smulders CE, Smeets HJ, Loots W, et al. 1997. Paternal transmission of congenital myotonic dystrophy. J Med Genet 34: 930-933.
6. Drusedau M, Dreesen JC, Die-Smulders C, et al. 2004. Preimplantation genetic diagnosis of spinocerebellar ataxia 3 by (CAG) (n) repeat detection. Mol Hum Reprod 10: 71-75.
7. Findlay I, Ray P, Quirke P, Rutherford A, Lilford R. 1995. Allelic drop-out and preferential amplification in single cells and human blastomeres: implications for preimplantation diagnosis of sex and cystic fibrosis. Hum Reprod 10: 1609-1618.
8. Harper JC, Delhanty JD, Handyside AH. 2001. Preimplantation Genetic Diagnosis. John Wiley and Sons: West Sussex.
9. Lewis R. 2005. Human Genetics: Concepts and Applications. McGraw-Hill Higher Education: London.
10. Mahadevan M, Tsilfidis C, Sabourin L, et al. 1992. Myotonic dystrophy mutation: an unstable CTG repeat in the 3′ untranslated region of the gene. Science 255: 1253-1255.
11. Mahadevan MS, Amemiya C, Jansen G, et al. 1993. Structure and genomic sequence of the myotonic dystrophy (DM kinase) gene. Hum Mol Genet 2: 299-304.
12. Mankodi A, Thornton CA. 2002. Myotonic syndromes. Curr Opin Neurol 15: 545-552.
13. Nakagawa M, Yamada H, Higuchi I, et al. 1994. A case of paternally inherited congenital myotonic dystrophy. J Med Genet 31: 397-400.
14. Piyamongkol W, Harper JC, Delhanty JD, Wells D. 2001a. PGD protocols using multiplex fluorescent PCR. Reprod Biomed Online 2: 212-214.
15. Piyamongkol W, Harper JC, Sherlock JK, et al. 2001b. A successful strategy for preimplantation genetic diagnosis of myotonic dystrophy using multiplex fluorescent PCR. Prenat Diagn 21: 223-232.
16. Sermon K, Van Steirteghem A, Liebaers I. 2004. Preimplantation genetic diagnosis. Lancet 363: 1633-1641.
17. Sherlock J, Cirigliano V, Petrou M, Tutschek B, Adinolfi M. 1998. Assessment of diagnostic quantitative fluorescent multiplex polymerase chain reaction assays performed on single cells. Ann Hum Genet 62(Pt 1): 9-23.
18. Tanaka Y, Suzuki Y, Shimozawa N, Nanba E, Kondo N. 2000. Congenital myotonic dystrophy: report of paternal transmission. Brain Dev 22: 132-134.