شنبه 8 دی 1403
[Archive]
دوره 4، شماره 1 - ( 4-1385 )
جلد 4 شماره 1 صفحات 44-41 |
برگشت به فهرست نسخه ها
Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:
Omrani M D. Androgen receptor gene trinucleotide repeats as a marker for tracing disease in a family with intersex patients. IJRM 2006; 4 (1) :41-44
URL: http://ijrm.ir/article-1-44-fa.html
URL: http://ijrm.ir/article-1-44-fa.html
Androgen receptor gene trinucleotide repeats as a marker for tracing disease in a family with intersex patients. International Journal of Reproductive BioMedicine. 1385; 4 (1) :41-44
چکیده: (2436 مشاهده)
Mutations of the androgen receptor (AR) gene give rise to a wide array of phenotypic abnormalities. Various mutations of the AR gene and expanded polyglutamine repeats (CAG) at exon 1 of the gene have been reported in patients with infertility and neurodegenerative diseases. However, the role of the AR gene trinucleotides repeats has not been systemically studied in those with hypospadias or genital ambiguity. In this study it was tried to find out the potential association between these repeats and sexual development in a family consisted of 10 persons including one girl with primary amenorrhea and two boys with severe hypospadias. Mother was heterozygote for both CAG and GGN repeats. All affected children inherited the longer CAG and GGN repeat from their mother and all their healthy siblings inherited shorter CAG and GGN repeat. Only one girl had heterozygous situation like her mother. Our results indicated that disease locus is in linkage disequilibrium with the CAG and GGN trinucleotide repeats in the AR gene.
نوع مطالعه: Original Article |
فهرست منابع
1. Kučinskas L, Just W. Human male sex determination and sexual differentiation: pathways, molecular interactions and genetic disorders. Medicina 2005; 41(8): 633-640.
2. Gelmann EP. Androgen receptor mutations in prostate cancer. Cancer Treat Res 1996; 87: 285-302. [DOI:10.1007/978-1-4613-1267-3_12]
3. Chang C, Saltzman A, Yeh S, Young W, Keller E, Lee HJ, et al. Androgen receptor: An overview. Crit Rev Eukaryot Gene Expr 1995; 5: 97-125. [DOI:10.1615/CritRevEukarGeneExpr.v5.i2.10]
4. Zhou ZX, Wong CI, Sar M, Wilson EM. The androgen receptor: An overview. Recent Prog Horm Res 1994; 49: 249-274. [DOI:10.1016/B978-0-12-571149-4.50017-9]
5. Lindzey J, Kumar MV, Grossman M, Young C, Tindall DJ. Molecular mechanisms of androgen action. Vitam Horm 1994; 49: 383-432. [DOI:10.1016/S0083-6729(08)61151-6]
6. Lubahn DB, Brown TR, Simental JA, Higgs HN, Migeon CJ, Wilson EM, et al. Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity. Proc Natl Acad Sci USA 1989; 86: 9534-9538. [DOI:10.1073/pnas.86.23.9534]
7. Kuiper GG, Faber PW, van Rooij HC, van der Korput JA, Ris-Stalpers C, Klaassen P, et al. Structural organization of the human androgen receptor gene. J Mol Endocrinol 1989; 2: R1-R4. [DOI:10.1677/jme.0.002R001]
8. Faber PW, van Rooij HC, Schipper HJ, Brinkmann AO, Trapman J. Two different, overlapping pathways of transcription initiation are active on the TATA-less human androgen receptor promoter: The role of Sp1. J Biol Chem 1993; 268: 9296-9301.
9. La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbech KH. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 1991; 352: 77-79. [DOI:10.1038/352077a0]
10. Choong CS, Kemppainen JA, Wilson EM. Evolution of the primate androgen receptor: A structural basis for disease. J Mol Evol 1998; 47: 334-342. [DOI:10.1007/PL00006391]
11. Macke JP, Hu N, Hu S, Bailey M, King VL, Brown T, et al. Sequence variation in the androgen receptor gene is not a common determinant of male sexual orientation. Am J Hum Genet 1993; 53: 844-852.
12. Sartor O, Zheng Q, Eastham JA. Androgen receptor gene CAG repeat length varies in a race-specific fashion in men without prostate cancer. Urology 1999; 53: 378-380. [DOI:10.1016/S0090-4295(98)00481-6]
13. Wickelgren L. Estrogen stakes claim to cognition. Science 1997; 276(5313):675-678. [DOI:10.1126/science.276.5313.675]
14. Rubin LL, Gatchalian CL, Rimon G, Brooks SF. The molecular mechanisms of neuronal apoptosis. Curr Opin Neurobiol 1994; 4: 696-702. [DOI:10.1016/0959-4388(94)90012-4]
15. de Cristofaro T, Affaitati A, Feliciello A, Avvedimento EV, Varrone S. Polyglutamine-mediated aggregation and cell death. Biochem Biophys Res Commun 2000; 272: 816-821. [DOI:10.1006/bbrc.2000.2843]
16. Abel A, Walcott J, Woods J, Duda J, Merry DE. Expression of expanded repeat androgen receptor produces neurologic disease in transgenic mice. Hum Mol Genet 2001; 10(2):107-1. [DOI:10.1093/hmg/10.2.107]
| بازنشر اطلاعات | |
 |
این مقاله تحت شرایط Creative Commons Attribution-NonCommercial 4.0 International License قابل بازنشر است. |
