KnE Life Sciences

ISSN: 2413-0877

The latest conference proceedings on life sciences, medicine and pharmacology.

The Potency of ∆F 508-T Gen Mutant the Coding of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) As Prototype at the Congenital Bilateral Absence of Vas Deferens (CBAVD) Disease in Indonesia

Published date: Dec 03 2017

Journal Title: KnE Life Sciences

Issue title: The Veterinary Medicine International Conference (VMIC)

Pages: 139-152

DOI: 10.18502/kls.v3i6.1123

Authors:

Maslichah MafruchatiStudent Airlangga University Faculty of Medicine, Airlangga University

Mas’ud HarijadiDepartment of Reproduction Veterinary Science Airlangga University Faculty of Medicine, Airlangga University

Widjiati WidjiatiDepartment of Anatomy Veterinary Anatomy Airlangga University Faculty of Medicine, Airlangga University

Boerhan HidayatDirector of Specific Infection Hospital Airlangga University Faculty of Medicine, Airlangga University

Abstract:
Birth defect (congenital defect / congenital condition) is an anomaly appearing at birth and able to cause the physical or mental defect or death. Birth defect generally can be detected during the prenatal period. However, if this cannot be detected during the prenatal period, it can be identified at the post natal examination. Congenital Bilateral Absence Vas Difference (CBAVD) is of one the congenital defects characterized by Azoospermia causing the occurrence of infertility. This congenital defect can bring impact to the structural, functional and metabolism anomalies. Approximately 7.9 million children in the world (about 6% of the whole anomalies in the world) were born with serious congenital defects every year due to genetic anomaly or other post-conception. The determination of optimal output from PCR optimization to obtain the location of ∆F 508-T mutant on CBAVD patients in Indonesia is conducted pursuant to the gene target. The conclution were influence of various factors as the indicator specifying the mutation of ∆F 508-T mutant needs to be considered in making a decision for the preliminary research on CBAVD in Indonesia.
References:

Arikrishnan. 2012. Congenital Defect. 25 Mei 2014 from http://respiratory.usu.ac.id/bits tream/123456789/37882/4/cha pter.2011.pdf.

Casals, T., Bassas, L., Ruiz-Romero, J., Chillo’n, M., Gime’nez, J., and Ramos, MD., MD. 2000. Extensive analysis of 40

infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be

detected. Hum Genet, 95:2011.

Cheng SH, Gregory RJ, Marshall J, Paul D, Souza DW, White GA, O’Riordan CR, and Smith AE. 1990 .Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis. Cell, 63:827-834.

Dada, R. 2011. Genetic Testing in Male Infertility. The Open

Reproductive Science
Journal, 3(1)42-56.

Depkes 2000. Infant Mortality Rate. Revised 28 May 2014 from



9
Biotechnology Strengthen on Biomedical Science and Veterinary Medicine

http://digilib.unimus.ac.id/dow nloat.php.id=14121

Durieu, E and Hollmann, M.W. 1997. Local anesthetics and the inflammatory response : A new therapeutic indication?. Anesthesiology. 93:858-75

Jianmin, Y. 2012. CFTR mutations in men with CBAVD: a systemic review and meta-

analysis. Human Reproduction, 11:25-35.

Josserand, R.N., Omar F.B, Rollet J, Lejeune H, Boggio D, Durand D.V, Durieu I. 2001. Cystic

Fibrosis Phenotype Evaluation and Paternity Outcome in 50 Males with Congenital Billateral Absence of Vas Deferens. Human Reproduction 16(10):2093-2097.

Michelson AD, Harrison P, and Keeling D. 1949. Clinicat test of platelets function. Platelets 2nd edition. New York: Elsevier Inc. 2:445-474.

Poernomo B, Mafruchati M, Widjiati, and Luqman E.P. 2012. Embriology Textbook. Airlangga University Press Surabaya, Indonesia. 3rd Edition 18-4

Rantam, F.A. 2011. Applied Immunology Lecture Doctoral Programme, Postgraduate Studies, Airlangga University, Indonesia

Wang, Z., Milunrsity J, Yamin M, Maher T, Oates R, and Aublrey M. 2002. Center for

Human Genetics and Departement of Pediatric and Urology. Boston University School Medicine. USA. J.

Human Reproductive, 17(8):2006-2072.

Weiske, G., Rodenbeck A, Riemann D, Klein T, Feige B, Horny A, Hummel R, Al-Shajlawi A, and Voderholzer U., 2002,

Nocturnal cortisol and

melatonin secretion in primary insomnia, Psychiatry Res, 113:17-27.

Wilschanski, M., Dupuis A, Ellis Jarvi K, Zielenski J, Tullis E, S Martin S, Corey M, Tsui L.C., and Durie P. 2006. Mutations in The Cystic

Fibrosis Transmembrane Regulator Gene and In Vivo

Transepithelial Potentials

American Journal of Respiratory and Critical Care Medicine, 174:787-794.

Zabner, Joseph, Ramsey Bonnie W, and Meeker David P. 1996. Repeat Administration of an Adenovirus Vector Encoding

Cystic Fibrosis Transmembrane Conductance Regulator to The Nasal Epithelium of Patients witj Cystic Fribrosis. USA. The American Society for Clinical

Investigation. 97(6):1504-1511.

Download
HTML
Cite
Share
statistics

366 Abstract Views

335 PDF Downloads