CTG amplification in the DM1PK gene is not associated with idiopathic male subfertility

Human Reproduction

Volumn 19, Issue 9, 2004, Pages 2084-2087

  Kunej, Tanja ^a   Teran, Nataša ^a   Zorn, Branko ^a   Peterlin, Borut ^a  

^a UNIVERSITY MEDICAL CENTRE LJUBLJANA   (Slovenia)

Author keywords

Azoospermia; CTG repeats; DM1PK gene; Male subfertility; Myotonic dystrophy type 1 (DM1)

Indexed keywords

CYTOSINE; FOLLITROPIN; GUANINE; THYMINE;

ARTICLE; AZOOSPERMIA; CELL STRUCTURE; CHROMOSOME 19Q; CHROMOSOME SIZE; CONTROLLED STUDY; CORRELATION ANALYSIS; FOLLITROPIN BLOOD LEVEL; GENE AMPLIFICATION; GENE MUTATION; GENETIC POLYMORPHISM; HETEROZYGOTE; HISTOLOGY; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; MALE INFERTILITY; MYOTONIC DYSTROPHY; OLIGOSPERMIA; OUTCOMES RESEARCH; SCORING SYSTEM; SPERMATOZOON DENSITY; SPERMATOZOON MOTILITY; STATISTICAL SIGNIFICANCE; SUBFERTILITY; TESTIS SIZE; TRINUCLEOTIDE REPEAT;

EID: 4544352461     PISSN: 02681161     EISSN: None     Source Type: Journal    
DOI: 10.1093/humrep/deh382     Document Type: Article

References (19)

1. Brewster B, Groenen P and Wieringa B (1998) Myotonic dystrophy: clinical and molecular aspects. In Emery AEH (ed.) Neuromuscular Disorders: Clinical and Molecular Genetics. John Wiley & Sons Ltd, Chichester, UK, pp. 323-364.
2. Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, Aburatani H, Hunter K, Stanton VP, Thirion JP, Hudson T 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. Cobo AM, Poza JJ, Blanco A, Lopez de Munain A, Saenz A, Azpitarte M, Marchessi J and Marti Masso JF (1996) Frequency of myotonic dystrophy gene carriers in cataract patients. J Med Genet 33,221-223.
4. Dean NL, Phillips SJ, Chan P, Tan SL and Ao A (2002) Reported relationship between increased CTG repeat lengths in myotonic dystrophy and azoospermia. Hum Reprod 17,3003-3004.
5. Dowsing AT, Yong EL, Clark M, McLachlan RI, de Kretser DM and Trounson AO (1999) Linkage between male infertility and trinucleotide repeat expansion in the androgen-receptor gene. Lancet 354,640-643.
6. Harper PS (1989) Myotonic Dystrophy, 2nd edn. WB Saunders Co, London, UK.
7. Holstein AF, Schulze W and Breucker H (1994) Histopathology of human testicular and epididymal tissue. In Hargreave TB (ed.) Male Infertility. Springer Verlag, London, pp. 105-148.
8. Hortas ML, Castilla JA, Gil MT, Molina J, Garrido ML, Morell M and Redondo M (2000) Decreased sperm function of patients with myotonic muscular dystrophy. Hum Reprod 15,445-448.
9. Kidd A, Turnpenny P, Kelly K, Clark C, Church W, Hutchinson C, Dean JC and Haites NE (1995) Ascertainment of myotonic dystrophy through cataract by selective screening. J Med Genet 32,519-523.
10. n triple mutation. J Endocrinol Invest 17,381-383.
11. Mastrogiacomo I, Bonanni G, Menegazzo E, Santarossa C, Pagani E, Gennarelli M and Angelini C (1996) Clinical and hormonal aspects of male hypogonadism in myotonic dystrophy. Ital J Neurol Sci 17,59-65.
12. Medica I, Markovic D and Peterlin B (1997) Genetic epidemiology of myotonic dystrophy in Istria. Croatia. Acta Neurol Scand 95,164-166.
13. Mifsud A, Sim CK, Boettger-Tong H, Moreira S, Lamb DJ, Lipshultz LI and Yong EL (2001) Trinucleotide (CAG) repeat polymorphisms in the androgen receptor gene: molecular markers of risk for male infertility. Fertil Steril 75,275-281.
14. Nieschlag E, Behre HM, Meschede D et al. (2000) Disorders at the testicular level. In Nieschlag E md Behre HM (eds) Andrology: Male Reproductive Health and Dysfunction, 2nd edn. Springer-Verlag, Berlin, pp. 83-87.
15. Pan H, Li YY, Li TC, Tsai WT, Li SY and Hsiao KM (2002) Increased (CTG/CAG)(n) lengths in myotonic dystrophy type 1 and Machado-Joseph disease genes in idiopathic azoospermia patients. Hum Reprod 17, 1578-1583.
16. Peterlin B, Medica I, Ladavac E, Batagelj M and Piljan S (1996) Cataract patients as potential carriers of myotonic dystrophy mutations. Eur J Hum Genet 4 (Suppl 1),119.
17. Sasagawa N, Saitoh N, Shimokawa M, Sorimachi H, Maruyama K, Arahata K, Isiura S and Suzuki K (1996) Effect of artificial (CTG) repeat expansion on the expression of myotonin protein kinase (MtPK) in COS-1 cells. Biochim Biophys Acta 1315,112-116.
18. World Health Organization (1992) WHO Laboratory Manual for the Examination of Human Semen and Semen-Cervical Mucus Interaction, 3rd edn. Cambridge University Press, Cambridge, UK.
19. Yoshida KI, Yano M, Chiba K, Honda M and Kitahara S (1999) CAG repeat length in the androgen receptor gene is enhanced in patients with idiopathic azoospermia. Urology 54,1078-1081.