DETEKSI MUTASI P.CYS221GLY PADA GEN PROLAKTIN (Prl) PADA SAPI PEJANTAN FRIESIAN HOLSTEIN MENGGUNAKAN METODE PCR-RFLP

SY. FILDA AZZAHRA, . (2025) DETEKSI MUTASI P.CYS221GLY PADA GEN PROLAKTIN (Prl) PADA SAPI PEJANTAN FRIESIAN HOLSTEIN MENGGUNAKAN METODE PCR-RFLP. Sarjana thesis, UNIVERSITAS NEGERI JAKARTA.

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Abstract

Mutasi genetik pada gen Prolaktin (Prl), khususnya p.Cys221Gly, diketahui dapat menyebabkan sindrom "hairy" yang berdampak negatif terhadap regulasi suhu tubuh dan produksi susu pada sapi perah. Mutasi ini disebabkan adanya subtitusi nukleotida A menjadi C di ekson lima tepatnya di posisi g.35332871A>C pada gen prolaktin berdasarkan NC_037350.1. Penelitian ini bertujuan untuk mendeteksi keberadaan mutasi p.Cys221Gly pada gen Prl serta menentukan frekuensi genotipe dan alel pada populasi pejantan sapi Friesian Holstein (FH) dari Balai Inseminasi Buatan (BIB) Lembang dan Balai Besar Inseminasi Buatan (BBIB) Singosari. Sebanyak 53 sampel DNA diisolasi dari semen beku sapi pejantan FH dan dianalisis menggunakan metode PCR-RFLP dengan enzim restriksi TasI. Hasil amplifikasi PCR menunjukkan keberhasilan amplifikasi fragmen gen Prl sepanjang 310 bp. Hasil RFLP menunjukkan seluruh sampel hanya memiliki alel normal (alel A) atau bergenotipe AA yang dicirikan dengan dua potongan pita (177 dan 133 bp). Hasil ini juga terkonfirmasi berdasarkan sekuensing sanger dari satu sampel representatif. Frekuensi genotipe AA tercatat sebesar 100%, sedangkan CA dan CC sebesar 0%. Frekuensi alel A sebesar 100% dan alel C sebesar 0%, dengan nilai heterozigositas pengamatan (Ho) dan harapan (He) sebesar 0. Hasil ini menunjukkan bahwa seluruh sampel yang diamati tidak membawa mutasi p.Cys221Gly atau bebas dari mutasi hairy. Penelitian ini memberikan data awal penting dalam mendukung program seleksi genetik bebas mutasi hairy yang berpengaruh negatif terhadap produksi susu dan kesehatan sapi FH di Indonesia*****A genetic mutation in the prolactin (Prl) gene, specifically p.Cys221Gly, is known to cause the "hairy" syndrome, which negatively affects thermoregulation and milk production in dairy cattle. This mutation results from a nucleotide substitution from A to C in exon five, precisely at position g.35332871A>C in the prolactin gene, based on the NC_037350.1 reference genome. This study aimed to detect the presence of the p.Cys221Gly mutation in the Prl gene and to determine the genotype and allele frequencies in the Friesian Holstein (FH) bull population from the Lembang Artificial Insemination Center (BIB) and the Singosari National Artificial Insemination Center (BBIB). A total of 53 DNA samples were isolated from frozen semen of FH bulls and analyzed using the PCR-RFLP method with the TasI restriction enzyme. PCR amplification successfully produced a 310 bp fragment of the Prl gene. RFLP analysis showed that all samples possessed only the normal allele (A) or had the AA genotype, characterized by two DNA fragments (177 and 133 bp). This result was further confirmed by Sanger sequencing of a representative sample. The frequency of the AA genotype was 100%, while CA and CC were 0%. The allele frequency for A was 100% and for C was 0%, with observed (Ho) and expected (He) heterozygosity values of 0. These results indicate that all samples analyzed were free from the p.Cys221Gly mutation, suggesting the absence of the "hairy" mutation. This study provides important baseline data to support genetic selection programs aimed at eliminating the hairy mutation, which negatively impacts milk production and health in FH cattle in Indonesia.

Item Type:	Thesis (Sarjana)
Additional Information:	1). Prof. Dr. Yulia Irnidayanti, M.Si. ; 2). Saiful Anwar, S.pt., M.Si.
Subjects:	Sains > Sains, Ilmu Pengetahuan Alam
Divisions:	FMIPA > S1 Biologi
Depositing User:	Users 30517 not found.
Date Deposited:	21 Aug 2025 02:43
Last Modified:	21 Aug 2025 02:43
URI:	http://repository.unj.ac.id/id/eprint/61783

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