Tesis

Analisis Variasi dan Ekspresi Gen Kinesin Family Member 17 dan Four and Half Lim Domain 5 pada Laki-laki dengan Spermatogenic Arrest = Analysis of Gene Variations and Expression of Kinesin Family Member 17 And Four And Half Lim Domain 5 in Men With Spermatogenic Arrest.

Spermatogenic arrest adalah kondisi gangguan diferensiasi sel germinal untuk menghasilkan spermatozoa, salah satu penyebab antara lain kelainan genetik. KIF17 dan FHL5 diketahui berperan dalam proses spermatogenesis, dimana bila terjadi kelainan akan menimbulkan kondisi spermatogenic arrest. Penelitian ini bertujuan untuk menganalisis variasi pada KIF17 rs13375609 dan FHL5 rs2273621 dan ekspresi mRNA KIF17 dan FHL5 pada laki-laki dengan spermatogenic arrest yang dikorelasikan dengan kriteria Johnsen. Penelitian menggunakan studi potong lintang. Total sampel penelitian terdiri atas 51 sampel darah laki-laki normal dan 65 sampel biopsi testis dengan rincian 2 sampel kriteria Johnsen 8 untuk kalibrator ekspresi, 36 sampel kriteria Johnsen 3-5 dan 27 sampel kriteria Johnsen 6-7. Distribusi genotipe dan alotipe dianalisis dengan T-ARMS PCR dan ekspresi mRNA KIF17 dan FHL5 menggunakan qRT-PCR. Analisis data dengan uji chi square, anova, dan uji korelasi pearson dengan tingkat kemaknaan nilai p < 0.05. Distribusi genotipe antara kelompok kasus dan kontrol pada KIF17 rs13375609 yang paling sering ditemukan adalah CT dengan frekuensi 78,4% pada kelompok kasus, dan 80,4% pada kelompok kontrol. Tidak ditemukan asosiasi yang bermakna antara genotipe/alotipe KIF17 rs13375609 serta ekspresi relatif KIF17 dengan spermatogenic arrest. Distribusi genotipe FHL5 rs2273621 yang paling sering ditemukan pada kelompok kasus adalah AG (94,1%), sedangkan pada kelompok kontrol adalah GG (49,0%). Ditemukan asosiasi yang bermakna antara genotipe/alotipe FHL5 rs2273621 serta ekspresi gen FHL5 dengan spermatogenic arrest. KIF17 dan FHL5 dengan spermatogenic arrest mempunyai korelasi yang tidak bermakna. Kesimpulan pada penelitian ini adalah ditemukan asosiasi antara Genotipe/alotipe dan ekspresi relatif gen FHL5 dengan kejadian spermatogenic arrest.
Kata Kunci: Spermatogenic arrest, KIF17, FHL5, Kriteria Johnsen


Spermatogenic arrest is a condition where germ cell differentiation is disrupted to produce spermatozoa, one of the causes this condition is genetic abnormalities. The KIF17 and FHL5 genes are known to play a role in the spermatogenesis process, if abnormalities occur it will cause spermatogenic arrest. This study aims to analyze variations in the KIF17 rs13375609 and FHL5 rs2273621 and KIF17 and FHL5 mRNA expression in men with spermatogenic arrest which is correlated with the Johnsen criteria. The research used a cross-sectional study. The total research sample consisted of 51 normal male blood samples and 65 testicular biopsy samples with details of 2 samples with Johnsen 8 criteria for expression calibrator, 36 samples with Johnsen criteria 3-5 and 27 samples with Johnsen criteria 6-7. The distribution of genotypes and allotypes was analyzed by T-ARMS PCR and KIF17 and FHL5 mRNA expression using qRT-PCR. Data analysis using chi square test, anova, and Pearson correlation test with a significance level of p < 0.05. The distribution of genotypes between the case and control groups for the KIF17 rs13375609 which was most frequently found was CT with a frequency of 78.4% in the case group, and 80.4% in the control group. No significant association was found between the genotype/allotype of KIF17 rs13375609 and the relative expression of the KIF17 with spermatogenic arrest. The distribution of the FHL5 rs2273621 genotype that was most frequently found in the case group was AG (94.1%), while in the control group it was GG (49.0%). A significant association was found between the FHL5 rs2273621 genotype/allotype and FHL5 expression with spermatogenic arrest. The KIF17 and FHL5 with spermatogenic arrest had no significant correlation. The conclusion of this study was that an association was found between genotype/allotype and the relative expression of the FHL5 with the incidence of spermatogenic arrest.
Keywords: Spermatogenic arrest, KIF17, FHL5, Johnsen Criteria