Uridine Monophosphate synthase in Holstein cattle

Nama : Kusnandar    G34104024
Pembimbing : Achmad Farajallah Cece Sumantri
Tanggal Lulus : 8-Aug-08
Judul Skripsi : Identifikasi Defisiensi Uridin Monofosfat Sintase (DUMPS) pada Sapi Friesien-Holstein (FH)
  Identification Deficiency of Uridine Monophosphate synthase in Holstein cattle
Abstrak:
Defisiensi uridin monofosfat sintase (DUMPS) merupakan kelainan genetik autosomal yang ditandai dengan kerusakan enzim uridin monofosfat (UMP) sintase. UMP sintase berfungsi mengkatalisis nukleotida pirimidin pada mamalia. Salah satu penyebab DUMPS adalah mutasi basa C menjadi basa T pada kromosom 1 (q31-36), kodon 405, ekson 5. Mutasi tersebut mengubah kodon penyandi arginin menjadi kodon stop. Kelainan genetik DUMPS pada populasi sapi FH di dunia menyebar mengikuti program inseminasi buatan. Deteksi dini DUMPS dengan polymerase chain reaction-restriction fragment length polymorphism diharapkan dapat mencegah kerugian dari segi ekonomi dan keturunan yang dihasilkan. Sebanyak 177 sampel darah sapi FH dari Balai Pembibitan Ternak Unggul Baturraden, peternakan Pondok Rangon Jakarta, peternakan rakyat Lembang, dan Balai Inseminasi Buatan Lembang berhasil di genotiping. Tiga dari jumlah tersebut karier DUMPS yang berasal dari induk betina sapi FH di peternakan rakyat Lembang. Dari empat peternakan tersebut frekuensi genotipe sapi FH normal sebesar 98,3 %, sapi FH karier sebesar 1,7%, frekuensi alel sapi FH normal 99,15 dan frekuensi alel sapi FH karier 0,85. Kontrol genetik dan kesehatan sapi ternak dalam program inseminasi buatan dapat mencegah penyebaran alel resesif DUMPS. Adanya sertifikat bebas DUMPS dan penyakit kelainan genetik lainnya untuk pembelian sperma pejantan dari luar dan manajemen pola perkawinan yang baik dan benar dapat mencegah masuknya alel mutan DUMPS di peternakan sapi FH di Indonesia
Abstract:
Deficiency of Uridine Monophosphate Synthase (DUMPS) is a recessive genetic disorder. Uridine Monophosphate Synthase is the enzyme responsible for converting orotic acid to uridine monophosphate, which is an essential component of pyrimidine nucleotides. A carrier-normal mating result in one-half normal offspring and one half carriers, regardless of sex. Embryos homozygous for DUMPS die early in gestation and do not survive to birth. With the wide use of artificial insemination and international trading of semen and breeding bulls, these genetic disease have already been spread to large a population. In our study, 177 dairy cattle have been screened by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Of the 177 genotyped for UMPS gene mutation, 174 were normal homozygote (PP), and three heterozygote for the disease (Pp). The frequency of the normal and DUMPS mutant allele were 99,15 and 0,85, respectively. Because of the economical significance of the DUMPS mutation and its recessive mode of inheritance, attention has to paid to any case of a bull having in his origin any know DUMPS carrier. Such a bull should be tested and if positive eliminated from the active population. Young bulls should also be screened for mutated allleles if in their progeny a high incidence of moratality is observed. This strategy would prevent the introduction of mutated alleles in the Indonesian cattle breeds.

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