Detection of N-Acetylglucosamine-6-Sulfatase (GNS) Gene Mutation Causing MPS IIID Genetic Disorder in Turkey Native Goats
Öz
Mucopolysaccharidosis IIID (MPSIIID) is an inherited lysosomal storage disease resulting from lack of the activity of the N-acetylglucosamine-6-sulfatase, which is one of the enzymes involved in the step-wise degradation of heparan sulfate. MPS IIID in goats has been described and characterized. Goats with this disorder demonstrate delayed motor development and growth retardation. Even if they reach sexual maturity, they will suddenly die from congestive heart failure. A molecular base for this disorder is a nonsense mutation at nucleotide 322 (C→T) results in the change of the arginine codon to a stop codon, which leads to stop enzyme function. However, this also creates a recognition site for AluI restriction enzyme for a genetic analysis. The aim of this study is to detect the presence of MPS IIID genetic disorder in Turkish native goat breeds. A total of 120 blood samples from 13 different native goat breeds were used as a material. Polymerase chain reaction (PCR) - Restriction fragment length polymorphism (RFLP) and DNA sequence data were utilized to identify the goat populations. The result of this study indicates nonsense mutation that causes MPS IIID genetic disorder is found in none of Turkish Native Goat breeds. However, a silent mutation was found at nucleotide 354 (T→C) when compared with reference sequence.
Anahtar Kelimeler
Ayrıntılar
Birincil Dil
İngilizce
Konular
Hayvansal Üretim (Diğer)
Bölüm
Araştırma Makalesi
Yayımlanma Tarihi
31 Temmuz 2017
Gönderilme Tarihi
22 Haziran 2017
Kabul Tarihi
-
Yayımlandığı Sayı
Yıl 2017 Cilt: 31 Sayı: 2
APA
Gedik, Y., & Kavuncu, O. (2017). Detection of N-Acetylglucosamine-6-Sulfatase (GNS) Gene Mutation Causing MPS IIID Genetic Disorder in Turkey Native Goats. Selcuk Journal of Agriculture and Food Sciences, 31(2), 82-85. https://izlik.org/JA79MR34EU
AMA
1.Gedik Y, Kavuncu O. Detection of N-Acetylglucosamine-6-Sulfatase (GNS) Gene Mutation Causing MPS IIID Genetic Disorder in Turkey Native Goats. Selcuk J Agr Food Sci. 2017;31(2):82-85. https://izlik.org/JA79MR34EU
Chicago
Gedik, Yasemin, ve Orhan Kavuncu. 2017. “Detection of N-Acetylglucosamine-6-Sulfatase (GNS) Gene Mutation Causing MPS IIID Genetic Disorder in Turkey Native Goats”. Selcuk Journal of Agriculture and Food Sciences 31 (2): 82-85. https://izlik.org/JA79MR34EU.
EndNote
Gedik Y, Kavuncu O (01 Temmuz 2017) Detection of N-Acetylglucosamine-6-Sulfatase (GNS) Gene Mutation Causing MPS IIID Genetic Disorder in Turkey Native Goats. Selcuk Journal of Agriculture and Food Sciences 31 2 82–85.
IEEE
[1]Y. Gedik ve O. Kavuncu, “Detection of N-Acetylglucosamine-6-Sulfatase (GNS) Gene Mutation Causing MPS IIID Genetic Disorder in Turkey Native Goats”, Selcuk J Agr Food Sci, c. 31, sy 2, ss. 82–85, Tem. 2017, [çevrimiçi]. Erişim adresi: https://izlik.org/JA79MR34EU
ISNAD
Gedik, Yasemin - Kavuncu, Orhan. “Detection of N-Acetylglucosamine-6-Sulfatase (GNS) Gene Mutation Causing MPS IIID Genetic Disorder in Turkey Native Goats”. Selcuk Journal of Agriculture and Food Sciences 31/2 (01 Temmuz 2017): 82-85. https://izlik.org/JA79MR34EU.
JAMA
1.Gedik Y, Kavuncu O. Detection of N-Acetylglucosamine-6-Sulfatase (GNS) Gene Mutation Causing MPS IIID Genetic Disorder in Turkey Native Goats. Selcuk J Agr Food Sci. 2017;31:82–85.
MLA
Gedik, Yasemin, ve Orhan Kavuncu. “Detection of N-Acetylglucosamine-6-Sulfatase (GNS) Gene Mutation Causing MPS IIID Genetic Disorder in Turkey Native Goats”. Selcuk Journal of Agriculture and Food Sciences, c. 31, sy 2, Temmuz 2017, ss. 82-85, https://izlik.org/JA79MR34EU.
Vancouver
1.Yasemin Gedik, Orhan Kavuncu. Detection of N-Acetylglucosamine-6-Sulfatase (GNS) Gene Mutation Causing MPS IIID Genetic Disorder in Turkey Native Goats. Selcuk J Agr Food Sci [Internet]. 01 Temmuz 2017;31(2):82-5. Erişim adresi: https://izlik.org/JA79MR34EU