Fetal kromozom anomalilerinin tanısında multiplex ligation-dependent probe amplification tekniğinin etkinliğinin araştırılması
The efficiancy of multiplex ligation-dependent probe amplification technique in the diagnosis of fetal chromosomal anomalies
- Tez No: 302714
- Danışmanlar: PROF. DR. SEHER BAŞARAN
- Tez Türü: Doktora
- Konular: Genetik, Genetics
- Anahtar Kelimeler: MLPA, Chromosome abnormalities, Subtelomere, Pathological fetal ultrasonography
- Yıl: 2011
- Dil: Türkçe
- Üniversite: İstanbul Üniversitesi
- Enstitü: Sağlık Bilimleri Enstitüsü
- Ana Bilim Dalı: Genetik Ana Bilim Dalı
- Bilim Dalı: Belirtilmemiş.
- Sayfa Sayısı: 271
Özet
Kromozom anomalileri MKA/MR olgularının %15-20' sinde saptanan önemli etiyolojik faktörlerden biridir. Klasik sitogenetik tekniklerle gösterilemeyen
Özet (Çeviri)
Chromosome abnormalities are found in 15-20% of MCA/MR patients, and FISH studies can unveil subtelomeric aberrations, which constitute an additional 4-8% in MCA/MR etiology. Molecular techniques can be used to identify chromosomal abnormalities smaller than 5 Mb. Postnatally, clinical findings guide the clinician in choosing syndrome-specific FISH probes. This is usually impossible in prenatal cases. Employed molecular techniques provide edge in diagnosis of chromosomal anomalies undetectable by classical methods.MLPA is based upon the utilization of different probe-sets designed for diagnosing different chromosome anomalies. P070 probe-set is used to screen subtelomeric regions and P245 set for known microdeletion / duplication syndromes.In this study, we aimed to search for subtelomeric aberrations and syndrome-related microdeletions/duplications by MLPA, in fetuses with major ultrasonographic abnormalities, where no chromosomal abnormalities could be identified by conventional methods.Tissue samples from 66 fetuses were studied with P070 and P245 probe-sets.In 3 cases (4.5%), a submicroscopic chromosomal aberration was found. Among these, the 18p and 7q11.23 deletions were confirmed by FISH. Another case with a 18q subtelomeric duplication was studied with microarray techniques for confirmation, and the duplication was shown to be a tetra allelic gain of ~75kb. The duplication can be a polymorphism rather than being causative however, the parental status is not investigated.In our study, the frequency of chromosomal aberrations (%0-6.5) revealed by MLPA was compatible with the literature. MLPA is superior to FISH in providing the advantage of multiple patient and loci screening, while microarray techniques are better qualified for whole genome screening since can detect unpredictable anomalies.
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