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Genetic pattern and penetrance of polycystic kidney disease in the Western region of Iraq | ||
| Journal of University of Anbar for Pure Science | ||
| Article 5, Volume 5, Issue 2, 2011, Pages 11-19 PDF (518.68 K) | ||
| Document Type: Research Paper | ||
| DOI: 10.37652/juaps.2011.44107 | ||
| Author | ||
| Louay Mohammed Alani* | ||
| AL-Anbar University- College of of Science | ||
| Abstract | ||
| The aims of this study are to identify the genetic pattern, estimation of gene frequency, penterance, prevalence of PKD, and to furnish an appropriate plan for genetic counselling specific for these families under investigation. A total of 41 families reside in the western region of Iraq were included in this study. This study showed that PKD is inherited as an autosomal dominant disease due to the defects in PKD1 gene. Gene frequency was 0.003 and 0.997 for p and q respectively. Genotype frequency was 0.000009, 0.005982 and 0.994009 for p2, 2pq and p2, respectively. The prevalence of the disease is 3.7/1000. The mutation was originated outside this family. The individual numberthree from parent generation (Generation- I-3) who is the patient which brought this defected gene to all of her descendants. Gene flow of the defected gene into these families increased the frequency of p gradually. | ||
| Keywords | ||
| Genetic pattern; penetrance; polycystic kidney disease; Western region of Iraq | ||
| References | ||
|
1.Gabow P.A., Johnson A.M., KaehyW.D., chaapman A.B. )1990( Factors relating to renal function deterioration in autosomal dominant polycystic kidney disease(ADPKD). Kidney Int, 37:248- 253.
2. Morgan S, Grunfeld J (eds) .(1998) Inherited Disorders of the Kidney. New York: Oxford University Press.
3. Thivierge C., Kurbegovic A., Couillard M., Guillaume R., Cote´ O., and Trudel M (2006) Overexpression of PKD1 Causes Polycystic Kidney Disease. Mol. and Cell. Biol,. 26: 1538–1548
4. Blachfor, S.( 2002) Gale Encyclopedia of genetic disorders. Gale Group, Thomas learning, New York. USA.PP, 930-935.
5. Dalgaard, O. (1957) Bilateral Polycystic Disease of the Kidneys: A Follow-Up of Two Hundred and Eighty Four Patients and Their Families. Acta Medica Scandinavica, 328: 1–255.
6. Gardner K.D, Evan A.P.(1984) Cystic kidney: An engine evolves. Am J kidney Dis., 3:403-413
7. Gabow PA. (1993) Autosomal dominant polycystic kidney disease. N Engl Med., 329:332–342.
8. Calvet J.P, Grantham J.J. (2001) The genetics and physiology of polycystic kidney disease. Semin Nephrol., 21: 107– 123.
9. Chauvet V., Qian F., Boute N., Chauve Cai Y., Phakdeekitacharoen B, Onuchic L.F, Attie´ -Bitach T, Guicharnaud L, Devuyst O, G. Germino, J and Marie- Claire Gr. (2002) Expression of PKD1 and PKD2 transcripts and proteins in human embryo and during normal kidney development . Am. J. of Pathol.,160: 973-983.
10. York Pei. ( 2006) Diagnostic approach in autosomal dominant polycystic kidney disease. Clin. J. Am. Soc. Nephrol. 1: 1108–1114.
11. Simons M. and Walz1 G. (2006) Polycystic kidney disease: Cell division withouta c(l)ue? Kidney Int.70:854– 864
12. Niaudet, p. (2004) Autosomal recessive polycystic diseas. Orphanet Encyclopedia., 3: 1-5.
13. Chen, H., (2006). Atlas of genetic Dignosis and counselling. Humana Press. New Jersey, USA. PP 797-808.
14. Bennett, R. (1999) The practicale guide to the genetic family history. Wiley- liss.New york. USA. PP 112-115.
15. Ahmed, Z.B., Abud, A. M., Daylan, S. M.,and Yusif, A. Y. (2010). A study of congintal malformations in Alanbar province. Graduation project of 4th year. Department of Biology. College of Science. Alanbar Universty-Ramadi Iraq.( Unpublished internal communication).
16. Alanbar Census. (2010 ), Alanbar Ramadi. Iraq.
17. Alani, L. (1991) Genetic and environmental study of the incidence of neural tube defects and other malformation in mice. Ph.D. dissertation , Colorado State University. USA.
18. Hamilton, M. (2009) Population Genetics. Wiley-Blackwell, West Sussex, UK. PP. 9-23.
19. Pasternak, J.J. (2005). An introduction to Human Molecular Genetics: mechanisms of Inherited Diseases. 2ed edition. John Wiley and Sons. New Jersey, USA. PP 37- 58.
20. Rendel, J. M. (1962) The relationship between gene and phenotype. J. Theoret. Biol., 2: 296-308.
21.Sang, J.H.(1963) Penetrance,expressivity and thresholds. J. Hered., 54: 143 – 151.
22. Ravine, D., Walker, R.G., Gibson, R.N., Forrest, S.M., Richards, R.I., Friend, K., Sheffield, L.J., Kincaid-Smith, P. and Danks, D.M. (1992) Phenotype and Genotype Heterogeneity in autosomal dominant polycystic kidney disease. Lancet, 340: 1330–1333.
23. Torra R, Badenas C, Darnell A. (1996) Linkage, clinical features, and prognosis of autosomal dominant polycystic kidney disease types 1 and 2. J. Am. Soc. Nephrol., 7: 2142–2151.
24.Almeida S., E. Almeida, D. Peters, J R Pinto, I T avora, J Lavinha, M Breuning, M M Prata. ( 1995). Autosomal dominant polycystic kidney disease: evidence for the existence of a third locus in a Portuguese family. Hum. Genet 96: 83-88.
25.Martin C. Daoust, David M. Reynolds,Daniel G.(1995). Evidence for a third geneticlocus for autosomal dominant polycystic kidney disease. Genomics 25: 733-736.
26.Daoust M.C, Bichet, D.G., Somlo S. (1993). A French-Canadian family with Autosomal dominant polycystic kidney disease unliked to ADPKD1 and ADPKD2( abstract). J. Am Soc. Nephrol 4:262.
27. Gabow, P.A. (1990). AutosomalDominant polycystic kidney disease more than a renal disease. Amr. J.Kidney Dis. 16: 403-413.
28.Templeton, A. R.( 2006).Population genetics and micro evolutionary theory.John Wiley and Son , New Jersey, USA PP 48-63.
29. American PKD Foundation. (2010). ARPKD It’s Not Just a Kidney Disease. PKD Progress 26:10. | ||
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