Volume 11, Issue 8 (11-2013)                   IJRM 2013, 11(8): 659-0 | Back to browse issues page

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Shekouhi S, Baghbani F, Hasanzadeh Nazar-Abadi M, Hamzehloie T, Abbaszadegan M R, Saghafi N, et al . Identification of Xq22.1-23 as a region linked with hereditary recurrent spontaneous abortion in a family. IJRM 2013; 11 (8) :659-0
URL: http://ijrm.ir/article-1-447-en.html
1- Department of Medical Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran
2- Department of Gynecology, Qaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran
3- Department of Biochemistry, School of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
4- Department of Medical Genetics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran
5- Department of Medical Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran , Mojaradm@mums.ac.ir
Abstract:   (2209 Views)
Background: Recurrent spontaneous abortion (RSA) is one of the most common health complications with a strong genetic component. Several genetic disorders were identified as etiological factors of hereditary X linked RSA. However, more genetic factors remain to be identified.
Objective: In this study we performed linkage analysis on a large X linked RSA pedigree to find a novel susceptibility locus for RSA.
Materials and Methods: A linkage scan using 11 microsatellites was performed in 27 members of a large pedigree of hereditary X-linked RSA. Two point parametric Linkage was performed using Superlink v 1.6 program.
Results: Evidence of linkage was observed to markers at Xq23, DXS7133 and at Xq22.1 DXS101, with LOD score of 3.12 and 1.60, respectively.
Conclusion: Identified locus in this study may carry a responsible gene in RSA. Narrowing down of this region may leads to identification of this gene.
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Type of Study: Original Article |

References
1. Cunningham F lK, bloom S,Hauth J,Rouse D,spong C. Williams obstetrics. 23rd Ed. New York: Mc Grow Hill; 2010.
2. Robinson WP, Beever C, Brown CJ, Stephenson MD. Skewed X inactivation and recurrent spontaneous abortion. Semin Reprod Med 2001; 19: 175-181. [DOI:10.1055/s-2001-15397]
3. Sanchez JM, Franzi L, Collia F, De Diaz SL, Panal M, Dubner M. Cytogenetic study of spontaneous abortions by transabdominal villus sampling and direct analysis of villi. Prenat Diagnos 1999; 19: 601-603. https://doi.org/10.1002/(SICI)1097-0223(199907)19:7<601::AID-PD564>3.0.CO;2-0 [DOI:10.1002/(SICI)1097-0223(199907)19:73.0.CO;2-0]
4. Scott J JR, Ronald S, Gibbs R, Beth Y. Danforth's obstetrics and gynecology. 10th Ed. 2008.
5. Speroff LFM. Recurrent Pregnancy loss. In: R W, ed. Clinical Gynecologic Endocrinology And Infertitity. 7th Ed. Courier westford; 2005:1070-1093.
6. Hogge WA, Prosen TL, Lanasa MC, Huber HA, Reeves MF. Recurrent spontaneous abortion and skewed X-inactivation: is there an association? Am J Obstet Gynecol 2007; 196: 384. [DOI:10.1016/j.ajog.2006.12.012]
7. Pasquier E, Bohec C, De Saint Martin L, Le Marechal C, Le Martelot MT, Roche S, et al. Strong evidence that skewed X-chromosome inactivation is not associated with recurrent pregnancy loss: an incident paired case control study. Hum Reprod 2007; 22: 2829-2833. [DOI:10.1093/humrep/dem264]
8. Elghezal H, Hidar S, Mougou S, Khiri HSA. Prevalence of chromosomal abnormalities in couples with recurrent miscarriage. Fertil Steril 2007; 88: 721-723. [DOI:10.1016/j.fertnstert.2006.11.160]
9. Munoz M, Arigita M, Bennasar M, Soler A, Sanchez A, Borrell A. Chromosomal anomaly spectrum in early pregnancy loss in relation to presence or absence of an embryonic pole. Fertil Steril 2010; 94: 2564-2568. [DOI:10.1016/j.fertnstert.2010.04.011]
10. Bagislar S, Ustuner I, Cengiz B, Soylemez F, Akyerli CB, Ceylaner S, et al. Extremely skewed X-chromosome inactivation patterns in women with recurrent spontaneous abortion. Aust N Z J Obstet Gynaecol 2006; 46: 384-387. [DOI:10.1111/j.1479-828X.2006.00622.x]
11. Berek J. Berek & Novak's gynecology. 14th Ed. Philadelphia, Lippincott Williams & Wilkins; 2007.
12. Cook CL, Pridham DD. Recurrent pregnancy loss. Cur Opin Obstet Gynecol 1995; 7: 357-366. [DOI:10.1097/00001703-199510000-00006]
13. Goud TM, Mohammed Al Harassi S, Khalfan Al Salmani K, Mohammed Al Busaidy S, Rajab A. Cytogenetic studies in couples with recurrent miscarriage in the Sultanate of Oman. Reprod Biomed Online 2009; 18: 424-429. [DOI:10.1016/S1472-6483(10)60104-6]
14. Ozawa N, Maruyama T, Nagashima T, Ono M, Arase T, Ishimoto H, et al. Pregnancy outcomes of reciprocal translocation carriers who have a history of repeated pregnancy loss. Fertil Steril 2008; 90: 1301-1304. [DOI:10.1016/j.fertnstert.2007.09.051]
15. Stephenson MD, Awartani KA, Robinson WP. Cytogenetic analysis of miscarriages from couples with recurrent miscarriage: a case-control study. Hum Reprod 2002; 17: 446-451. [DOI:10.1093/humrep/17.2.446]
16. Pacheco TR, Levy M, Collyer JC, de Parra NP, Parra CA, Garay M, et al. Incontinentia pigmenti in male patients. J Am Acad Dermatol 2006; 55: 251-255. [DOI:10.1016/j.jaad.2005.12.015]
17. Shastry BS. Recent progress in the genetics of incontinentia pigmenti (Bloch-Sulzberger syndrome). J Hum Genet 2000; 45: 323-326. [DOI:10.1007/s100380070001]
18. Lanasa MC, Hogge WA, Kubik CJ, Ness RB, Harger J, Nagel T, et al. A novel X chromosome-linked genetic cause of recurrent spontaneous abortion. Am J Obstet Gynecol 2001; 185: 563-568. [DOI:10.1067/mob.2001.117670]
19. Pegoraro E, Whitaker J, Mowery-Rushton P, Surti U, Lanasa M, Hoffman EP. Familial skewed X inactivation: a molecular trait associated with high spontaneous-abortion rate maps to Xq28. Am J Hum Genet 1997; 61: 160-170. [DOI:10.1086/513901]
20. Ribeiro Rodrigues EM, Leite FP, Hutz MH, Palha Tde J, Ribeiro dos Santos AK, et al. A multiplex PCR for 11 X chromosome STR markers and population data from a Brazilian Amazon Region. Forens Sci Int 2008; 2: 154-158. [DOI:10.1016/j.fsigen.2007.10.179]
21. Turrina SAR. Filippini G, De Leo D. Development and forensic validation of a new multiplex PCR assay with 12 X-chromosomal short tandem repeats. Forens Sci Int 2007; 1: 201-204. [DOI:10.1016/j.fsigen.2007.01.011]
22. Kilpinen H, Ylisaukko-oja T, Rehnstrom K, Gaal E, Turunen JA, Kempas E, et al. Linkage and linkage disequilibrium scan for autism loci in an extended pedigree from Finland. Hum Mol Genet 2009; 18: 2912-2921. [DOI:10.1093/hmg/ddp229]
23. Jouet M, Stewart H, Landy S, Yates J, Yong SL, Harris A, et al. Linkage analysis in 16 families with incontinentia pigmenti. Eur J Hum Genet 1997; 5: 168-170.

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