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Screening of GHRHR and Npr2 genes as a genetic contributors of dwarfism in familial dwarfism of Khyber Pakhtunkhwa, Pakistan

By: Amir Atlas, Nargis Jamila, Sadiq Noor Khan, Hameed Ur Rehman, Jabar Zaman Khan Khattak, Muhammad Arshad Malik, Matiullah, Ajmal Shah

Key Words: Dwarfism, Linkage, Mutation, Pedigree, Polymerase Chain Reaction.

Int. J. Biosci. 14(1), 263-270, January 2019.

DOI: http://dx.doi.org/10.12692/ijb/14.1.263-270

Certification: ijb 2019 0140 [Generate Certificate]

Abstract

Dwarfism is a condition characterized by abnormal growth of body. In this condition, the parts of the body which have direct role in height like cartilages, bones and tendons, remain under developed. On the basis of tissues or cell suffering, dwarfism has been identified in large number of people have prevalence up to 200 such as achondroplasia, hypoachondroplasia, skeletal dysplasia, and simple dysplasia. Several factors for example hormones, genes involved in body growth, and even an environment have been studied as a cause of dwarfism. Some of the genes that are identified in individuals with dwarfism are GH, FGHR3, PNCT and GHRHR. This study was designed to investigate some of the important genes in three consanguineous families A, B and C. Different information such as pedigree construction, clinical features and reports of the patients were obtained. All the families were having autosomal recessive mode of inheritance of dwarfism. Techniques of Thermal Cycler and 2D gel electrophoresis were used for this analysis. The genotyping results of the families A, B and C, showed no linkage for the specific loci of the two genes. From the above study it may be concluded that this was the first report on the analysis of GHRHR gene as well as the subject samples of the District Karak, Khyber Pakhtunkhwa, Pakistan.

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Screening of GHRHR and Npr2 genes as a genetic contributors of dwarfism in familial dwarfism of Khyber Pakhtunkhwa, Pakistan

Alatzoglou KS, Dattani MT. 2012. Phenotype-genotype correlations in congenital isolated growth hormone deficiency (IGHD). The Indian Journal of Pediatrics 79(1), 99-106.

Bellus GA, Hefferon TW, de Luna RO, Hecht JT, Horton WA, Machado M. 1995. Achondroplasia is defined by recurrent G380R mutations of FGFR3. American Journal of Human Genetics 56(2), 368–373.

http://dx.doi.org/PMC1801129

Bartels, Cynthia F, Bükülmez, Hülya, Padayatti, Pius, Rhee, David K, van Ravenswaaij-Arts, Conny, Pauli, Richard M, Al-Gazali, Lihadh I. 2004. Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. The American Journal of Human Genetics 75(1), 27-34.

Carakushansky M, Whatmore AJ, Clayton PE, Shalet SM, Gleeson HK, Price DA,  Salvatori R. 2003. A new missense mutation in the growth hormone-releasing hormone receptor gene in familial isolated GH deficiency. European journal of endocrinology 148(1), 25-30.

Chomczynski, Piotr, Sacchi, Nicoletta. 1987. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Analytical biochemistry 162(1), 156-159.

Hilal L, Hajaji Y, Vie-Luton MP, Ajaltouni Z, Benazzouz B, Chana M, Sobrier ML. 2008.  Unusual phenotypic features in a patient with a novel splice mutation in the GHRHR gene. MOLECULAR MEDICINE-CAMBRIDGE MA THEN NEW YORK- 286.

Jabs EW, Li X, Scott AF, Meyers G, Chen W, Eccles M, Mao JI. 1994. Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. Nature Genetics 8(3), 275–279.

http://dx.doi.org/10.1038/ng1194–275.

Kimura T, Suzuki H, Ohashi T, Asano K, Kiyota H,  Eto Y. 2001. The incidence of thanatophoric dysplasia mutations in FGFR3 gene is higher in low‐grade or superficial bladder carcinomas. Cancer 92(10), 2555 2561.

http://dx.doi.org/10.1002/10970142(20011115)92.

Kishimoto I, Rossi K, Garbers DL. 2001. A genetic model provides evidence that the receptor for atrial natriuretic peptide (guanylylcyclase-A) inhibits cardiac ventricular myocyte hypertrophy. Pro National Academic Science USA. 98, 2703–2706.

http://dx.doi.org/10.1073/pnas.051625598.

Kruse II, Robert J. 2003. Narrating intersections of gender and dwarfism in everyday spaces. The Canadian Geographer/Le Geographe Canadian. 47(4), 494–508.

Kramvis, Anna, Bukofzer, Stanley, Kew, Michael C. 1996. Comparison of hepatitis B virus DNA extractions from serum by the QIAamp blood kit, GeneReleaser, and the phenol-chloroform method. Journal of clinical microbiology 34(11), 2731-2733.

Khan S, Basit S, Khan MA, Muhammad N, Ahmad W. 2016. Genetics of human isolated acromesomelic dysplasia. European Journal of Medical Genetics 59(4), 198–203.

https://doi.org/10.1016/j.ejmg.2016.02.011.

Langenickel TH, Buttgereit J, Pagel-Langenickel I, Lindner M, Monti J, Beuerlein K, Al-Saadi N, Plehm R, Popova E, Tank J, Dietz R, Willenbrock R, Bader M. 2006. Cardiac hypertrophy in transgenic rats expressing a dominant-negative mutant of the natriuretic peptide receptor B. ProcNatlAcadSci USA. 103, 4735–4740.

http://dx.doi.org/10.1073/pnas.0510019103.

Migliano AB, Romero IG, Metspalu M, Leavesley M, Pagani L, Antao T, Hudjashov G. 2013. Evolution of the pygmy phenotype: Evidence of positive selection from genome-wide scans in African, Asian, and Melanesian pygmies. Human biology 85(1-3), 251-284.

Orita, Masato, Iwahana, Hiroyuki, Kanazawa, Hiroshi, Hayashi, Kenshi, Sekiya, Takao. 1989. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proceedings of the National Academy of Sciences 86(8), 2766-2770.

Peng XD, Xu PZ, Chen ML, Hahn-Windgassen A, Skeen J, Jacobs J, Hay Dwarfism N. 2003. impaired skin development, skeletal muscle atrophy, delayed bone development, and impeded adipogenesis in mice lacking Akt1 and Akt2. Genes Development 17(11), 1352–1365.

http://www.genesdev.org/cgi/doi/10.1101/gad.1089403.

Potter LR, Abbey-Hosch S, Dickey DM. 2006. Natriuretic peptides, their receptors, and cyclic guanosine monophosphate-dependent signaling functions. Endocrinology Review 27, 47-72.

Pagel-Langenickel I, Buttgereit J, Bader M, Langenickel TH. 2007. Natriuretic peptide receptor B signaling in the  cardiovascular system: protection from cardiac pertrophy. Journal of Molecular Medical 85, 797-810.

http://dx.doi.org/10.1007/s00109-007-0183-4

Amir Atlas, Nargis Jamila, Sadiq Noor Khan, Hameed Ur Rehman, Jabar Zaman Khan Khattak, Muhammad Arshad Malik, Matiullah, Ajmal Shah.
Screening of GHRHR and Npr2 genes as a genetic contributors of dwarfism in familial dwarfism of Khyber Pakhtunkhwa, Pakistan.
Int. J. Biosci. 14(1), 263-270, January 2019.
https://innspub.net/ijb/screening-ghrhr-npr2-genes-genetic-contributors-dwarfism-familial-dwarfism-khyber-pakhtunkhwa-pakistan/
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