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Abstrak :
Latar Belakang: Amelogenin merupakan gen yang umum digunakan dalam identifikasi dimorfisme seksual, namun riset dan laporan kasus melaporkan adanya kegagalan dalam amplifikasi dikarenakan delesi pada AMELY. Tujuan: Menganalisis frekuensi delesi AMELY pada populasi pria di Indonesia. Metode: Pemeriksaan DNA dengan amplifikasi multipleks PCR menggunakan gen AMXY 1F/2R dan SRY. Hasil dan Kesimpulan: Satu dari 405 sampel penelitian mengalami delesi pada gen AMELY pada populasi di Indonesia. ...... Background: The Amelogenin gene represents the gender marker most widely used for human identification. However, some failures in sex-typing have been observed globally. Aim: In this study, we could approximate the population frequency of AMELY negative among Indonesian population. Methods: Multiplex PCR using primers AMXLY 1F/2R and SRY. Results and Summary: One of 405 sample are indicated as AMELY negative in an Indonesian Population.

Abstrak :
the availabilty of assisted reproductive technologies and advances in molecular biology gave rise to preimplantation genetic diagnosis (PGD). PGD is an early form of prental diagnosis and determines the genotype of an embryo before implantation takes place to avoid the implantation of diseased embryos. this requires couples to adhere to a strict family planning and effective contraceptive strategy, and undergo in vitro fertilization (IVF) treatment. during IVF, sampling of the cells can be performed at different developmental stages from polar body biopsy to trophectoderm cells from the blastocysts. it is indicated in couples with a family history of monogenic autosomal or X-linked recessive or dominant disorders and in detecting chromosomal aberrations of the embryos. the genetic diagnosis is performed using appropriate molecular testing which might include polymerase chain reaction, fluorescent in situ hybridization, comparative genomic hybridization or microarrays. PGD is now a wellestablished procedure and offers an alternative reproductive choice for couples who are at risk of an affected child. in this review, the past, present and future aspect of PGD will be covered.

Abstrak :
Latar Belakang : Neuronal ceroid lipofuscinoses (NCL) tipe 2 adalah kelompok penyakit langka yang diturunkan, bersifat autosomal resesif, dan progresif neurodegeneratif. Penyakit NCL tipe 2 disebabkan oleh mutasi pada gen TPP1 dengan prognosis buruk. Penyakit ini dapat diterapi dengan terapi sulih enzim yang mahal. Dengan melakukan carrier testing kita dapat melihat pembawa sifat dalam keluarga. Informasi tersebut berguna dalam mencegah keturunan berikut menjadi sakit dengan preimplantation genetic diagnosis (PGD). Salah satu teknik PGD adalah preimplantation genetic testing for monogenic disorder (PGT-M) dengan validasi analisis linkage dari short tandem repeat (STR). Tujuan penelitian ini untuk mendapatkan profil STR pada keluarga pasien NCL tipe 2 di Indonesia untuk persiapan PGD. Metode : Penelitian ini merupakan suatu studi observasional analitik pada keluarga pasien dengan NCL tipe 2 yang sudah terkonfirmasi secara enzimatik dan genetik. Carrier testing dilakukan pada kedua orang tua dan saudara kandung subjek, dilanjutkan pencarian STR pada area  ± 1 Mb dari gen TPP1. Pada setiap kandidat STR dilakukan fragment analysis pada subjek, kedua orang tua dan saudara kandung, serta dilakukan linkage analysis untuk menilai penanda STR bersegregasi dalam keluarga dan dapat digunakan sebagai kandidat dalam PGT. Hasil Penelitian : Terdapat 4 pasien dari 4 kota di Indonesia. Terdiri dari satu lelaki dan tiga perempuan. Keempat subjek menunjukkan gejala NCL tipe 2 klasik dengan awitan gejala usia 31-42 bulan. Ditemukan 3 varian patologis yaitu 1 varian frame-shift (c.583_584insTACA), 1 varian in-frame (c.1222_1224delAGT), dan 1 varian missense (c.679T>C). Hasil carrier testing menunjukkan semua orang tua sebagai carrier varian patogenik. Hasil fragment analysis dari dua buah STR D11S1996 dan D11S1338 menunjukkan segregasi dalam linkage analysis dalam keluarga subjek. Kesimpulan : Pada keempat pasien NCL tipe 2 di Indonesia ditemukan 3 varian patogenik. Carrier testing menunjukkan semua orang tua adalah pembawa sifat. Kedua STR D11S1996 dan D11S1338 dapat dipakai dalam program PGD pada pasien NCL tipe 2 di Indonesia. ......Background : Type 2 Neuronal Ceroid Lipofuscinoses (NCL) is a type of autosomal recessively inherited and progressive neurogenerative rare disease. This disease is due to TPP1 gene mutation, which have poor prognosis. Enzyme replacement therapy is available but with high cost. Carrier trait individual can be detected by carrier testing procedure, such as pre-implantation genetic diagnosis (PGD). These information can be useful to prevent disease occurence on subsequent generation. One PGD technique currently used is pre-implantation genetic testing for monogenic disorder (PGT-M) with linkage validation analysis of short tandem repeat (STR). The aim of this study was to search for STR marker in the type 2 NCL family in Indonesia for the preparation of PGD. Methods : This is an analytical observational study on patient's family with enzymatic and genetically confirmed case of type 2 NCL. Carrier testing were done on both parents and sibling of case patients. STR sequence testing were done on ± 1 Mb area of TPP1 gene, with fragment analysis on each STR candidate. Linkage analysis were also performed to look for segregated STR pattern on the family, which can be used as a candidate in PGD. Result : There were four case patients from 4 cities in Indonesia, 1 male and 3 female cases. These four cases manifested classic symptoms of type 2 NCL with onset age ranging from 31-42 months. Three pathological variants were found: 1 frame-shift variant (c.583_584insTACA), 1 in-frame variant (c.1222_1224delAGT), and 1 missense variant (c.679T>C). Carrier testing results showed all parents as pathogenic variant carrier. Fragment analysis from 2 STR (D11S1996 and D11S1338) showed segregation in linkage analysis on subject's family. Conclusion : From 4 type 2 NCL cases in Indonesia, 3 pathogenic variants were found, with carrier testing showed both of their parents as carriers. Both D11S1996 and D11S1338 STR can be utilized as PGD diagnostic of type 2 NCL patients in Indonesia.