Hipertrofik kardiyomiyopatili hastalarda hop (homeodomain only protein) gen mutasyonlarının analizi
Mutation analysis of hop (homeodomain only protein)gene in patients with hypertrophic cardiomyopathy
- Tez No: 192898
- Danışmanlar: PROF.DR. NİHAN ERGİNEL-ÜNALTUNA
- Tez Türü: Yüksek Lisans
- Konular: Biyoloji, Kardiyoloji, Moleküler Tıp, Biology, Cardiology, Molecular Medicine
- Anahtar Kelimeler: HOP, SRF, Cardiac Hypertrophy
- Yıl: 2006
- Dil: Türkçe
- Üniversite: İstanbul Üniversitesi
- Enstitü: Sağlık Bilimleri Enstitüsü
- Ana Bilim Dalı: Genetik Ana Bilim Dalı
- Bilim Dalı: Belirtilmemiş.
- Sayfa Sayısı: 88
Özet
ÖZETGüleç, Ç. Hipertrofik Kardiyomiyopatili Hastalarda HOP (Homeodomain Only Protein) Gen0XWDV\RQODUÃQÃQ$QDOL]LøVWDQEXOhQLYHUVLWHVL6D÷OÃN%LOLPOHUL(QVWLWÂVÂ*HQHWLN$QD%LOLP'DOÃ
Özet (Çeviri)
ABSTRACTGulec C. Analysis of HOP Gene Mutations in Patients with Hypertrophic Cardiomyopathy.Istanbul University, Institute of Health Science, Department of Genetics. Thesis of Master.øVWDQEXOHOP is a gene described recently and shown to control prenatal and postnatal heartgrowth. The aim of our study was to understand the possible modifying role of HOP gene inhypertrophic cardiomyopathy.Clinical heterogenity in HCM (Hypertrophic Cardiomyopathy) is thougt to be result ofinteraction between enviromental factors, disease causing gene and modifying genes. Wehypothesed that mutations which cause structural changes in HOP, might effect the functionof HOP in cardiac hypertrophy, thus phenotype of cardiac hypertrophy related diseases. We,therefore, analysed three exons, including protein coding sequences, of HOP gene by PCR-SSCP techniques in 50 patients diagnosed with HCM. We have not found any mutation whichcould change primer stucture of the protein. Within the region which includes 4th exon of thegene, we have found two intronic variations defined before. One of those variations is singlenucleotide polymorphism (SNP), and the other is deletion-insertion polimorphism (8-bp-DIP).Samples was genotyped by polyacrilamid gel for 8-bp-DIP variation. It has been seen that, 13samples (%26) from patient group (n=50) have D/D, 15 samples (%30) have I/I and 22samples (%44) have D/I genotype, and 30 samples (%30) from control group (n=100) haveD/D, 24 samples (%24) have I/I and 46 samples (%46) have D/I genotype. Genotypingresults, which are not significantly different between patient and control groups, werecompared with some patient data. Statistically, there couldn?t been found any correlation.Those results indicate that further study with more sensitive techniques and wider patientgroup is requered to elucide modifying role of HOP gene.
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