Preimplantasyon Genetik Tanı (PGT)

Preimplantasyon Genetik Tanı (PGD)

Preimplantasyon Genetik Tanı ; Son iki yılda gelişen teknikler birçok yeni kalıtsal hastalığın tanısını mümkün kılmıştır. İnsan genom haritasının çıkartılması sonrasında Genetik bilimi hızla yeni ufuklara doğru gitmektedir.

İnsanoğlu’nda 46 kromozom ve 90 bin gen tespit edilmiştir. Kisttik fibrozis denilen hastalıkta ki bu hastalık Batı Avrupa kökenli bireylerde yaygındır 500 kadar değişik mutasyon ile olabilmektedir. Tekrarlayan düşük yaşayan çiftlerin genetik hastalıklar açısından taranması önemlidir. Preimplantasyon Genetik Tanı ; Genetik hastalıkların hangilerinin çiftler tarafından taşındığının bilinmesi, oluşan embriyolar üzerinde de bu hastalıkların taranması şansını bize vermektedir. 1400 kadar genetik hastalık oluşturan bozukluk pahalı olmakla beraber taranabilir.

Preimplantasyon Genetik Tanı ; 

  • Aşağıda listesi verilen hastalıklar sadece bir kez kan vererek ya da tükürük örneği üzerinden taranabilir.

    17-Alpha-Hydroxylase Deficiency
    17-Beta-Hydroxysteroid Dehydrogenase Type III Deficiency
    21-Hydroxylase-Deficient Congenital Classical Adrenal Hyperplasia
    21-Hydroxylase-Deficient Congenital Nonclassical Adrenal Hyperplasia
    3-Beta-Hydroxysteroid Dehydrogenase Type II Deficiency
    3-Methylcrotonyl-CoA Carboxylase Deficiency: MCCC1 Related
    3-Methylcrotonyl-CoA Carboxylase Deficiency: MCCC2 Related
    3-Methylglutaconic Aciduria: Type 3
    6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
    Abetalipoproteinemia 
     Achromatopsia: CNGB3 Related 
     Acrodermatitis Enteropathica 
     Acyl-CoA Oxidase I Deficiency 
     Adenosine Deaminase Deficiency 
     Adrenoleukodystrophy: X-Linked 
     Alkaptonuria 
     Alpha-1-Antitrypsin Deficiency 
     Alpha-Mannosidosis 
     Alpha Thalassemia 
     Alport Syndrome: COL4A3 Related 
     Alport Syndrome: COL4A4 Related 
     Alport Syndrome: X-linked 
     Amegakaryocytic Thrombocytopenia 
     Andermann Syndrome 
     Androgen Insensitivity Syndrome: Complete 
     Argininosuccinate Lyase Deficiency 
     Aromatase Deficiency 
     ARSACS 
     Arts Syndrome 
     Aspartylglycosaminuria 
     Ataxia-Telangiectasia 
     Ataxia with Vitamin E Deficiency 
     Autosomal Recessive Polycystic Kidney Disease 
     Bardet-Biedl Syndrome: BBS10 Related 
     Bardet-Biedl Syndrome: BBS12 Related 
     Bardet-Biedl Syndrome: BBS1 Related 
     Bardet-Biedl Syndrome: BBS2 Related 
     Bare Lymphocyte Syndrome: Type II 
     Bartter Syndrome: Type 4A 
     Beta-Hexosaminidase Pseudodeficiency 
     Beta-Ketothiolase Deficiency 
     Beta Thalassemia 
     Biotinidase Deficiency 
     Bloom Syndrome 
     Canavan Disease 
     Carnitine Palmitoyltransferase IA Deficiency 
     Carnitine Palmitoyltransferase II Deficiency 
     Cartilage-Hair Hypoplasia 
     Cerebrotendinous Xanthomatosis 
     Charcot-Marie-Tooth Disease with Deafness: X-Linked: GJB1 Related 
     Charcot-Marie-Tooth Disease with Deafness: X-Linked: PRPS1 Related 
     Cholesteryl Ester Storage Disease 
     Choreoacanthocytosis 
     Choroideremia 
     Chronic Granulomatous Disease: X-Linked 
     Citrullinemia: Type I 
     Classical Galactosemia 
     Congenital Disorder of Glycosylation: Type 1A: PMM2 Related 
     Congenital Disorder of Glycosylation: Type 1B: MPI Related 
     Congenital Disorder of Glycosylation: Type 1C: ALG6 Related 
     Congenital Lipoid Adrenal Hyperplasia 
     Congenital Neutropenia: Recessive 
     Corneal Dystrophy and Perceptive Deafness 
     Corticosterone Methyloxidase Deficiency 
     Creatine Transporter Defect 
     Crigler-Najjar Syndrome 
     Cystic Fibrosis 
     Cystinosis 
     D-Bifunctional Protein Deficiency 
     Diabetes: Recessive Permanent Neonatal 
     Dihydropyrimidine Dehydrogenase Deficiency 
     Du Pan Syndrome 
     Dystrophic Epidermolysis Bullosa: Recessive 
     Ehlers-Danlos Syndrome: Type VIIC 
     Ellis-van Creveld Syndrome 
     Emery-Dreifuss Myopathy: X-Linked 
     Enhanced S-Cone 
     Ethylmalonic Aciduria 
     Fabry’s Disease 
     Factor IX Deficiency 
     Factor VIII Deficiency 
     Familial Dysautonomia 
     Familial Hyperinsulinism: Type 1: ABCC8 Related 
     Familial Hyperinsulinism: Type 2: KCNJ11 Related 
     Familial Mediterranean Fever 
     Familial Mediterranean Fever: Mild Form 
     Fanconi Anemia: Type C
     Fragile X Syndrome 
     Fumarase Deficiency 
     Galactokinase Deficiency 
     Gaucher Disease 
     Gitelman Syndrome 
     Globoid Cell Leukodystrophy 
     Glucose-6-Phosphate Dehydrogenase Deficiency 
     Glutaric Acidemia: Type I 
     Glycine Encephalopathy: AMT Related 
     Glycine Encephalopathy: GLDC Related 
     Glycogen Storage Disease: Type IA 
     Glycogen Storage Disease: Type IB 
     Glycogen Storage Disease: Type II 
     Glycogen Storage Disease: Type III 
     Glycogen Storage Disease: Type IV 
     Glycogen Storage Disease: Type V 
     Glycogen Storage Disease: Type VII 
     GM1-Gangliosidoses 
     GRACILE Syndrome 
     Guanidinoacetate Methyltransferase Deficiency 
     Hemochromatosis: Type 1: HFE Related 
     Hemochromatosis: Type 2A: HFE2 Related 
     Hemochromatosis: Type 3: TFR2 Related 
     Hemoglobinopathy: Hb C 
     Hemoglobinopathy: Hb D 
     Hemoglobinopathy: Hb E 
     Hemoglobinopathy: Hb O 
     Hereditary Fructose Intolerance 
     Herlitz Junctional Epidermolysis Bullosa: LAMA3 Related 
     Herlitz Junctional Epidermolysis Bullosa: LAMB3 Related 
     Herlitz Junctional Epidermolysis Bullosa: LAMC2 Related 
     Hermansky-Pudlak Syndrome 
     HMG-CoA Lyase Deficiency 
     Holocarboxylase Synthetase Deficiency 
     Homocystinuria Caused by CBS Deficiency 
     Hunter Syndrome 
     Hurler Syndrome 
     Hypohidrotic Ectodermal Dysplasia: X-Linked 
     Hypophosphatasia 
     Inclusion Body Myopathy: Type 2 
     Isovaleric Acidemia 
     Joubert Syndrome 
     Juvenile Retinoschisis: X-Linked 
     Laryngoonychocutaneous Syndrome 
     Leber Amaurosis 
     Leigh Syndrome: French-Canadian 
     Limb-Girdle Muscular Dystrophy: Type 2D 
     Limb-Girdle Muscular Dystrophy: Type 2E 
     Limb-Girdle Muscular Dystrophy: Type 2I 
     Lipoprotein Lipase Deficiency 
     Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency 
     Luteinizing Hormone Resistance (Leydig Cell Hypoplasia) 
     Maple Syrup Urine Disease: Type 1A 
     Maple Syrup Urine Disease: Type 1B 
     Maple Syrup Urine Disease: Type 3 
     Medium Chain Acyl-CoA Dehydrogenase Deficiency 
     Metachromatic Leukodystrophy 
     Methylmalonic Acidemia: MMAA Related 
     Methylmalonic Acidemia: MMAB Related 
     Methylmalonic Acidemia: MUT Related 
     Methylmalonic Aciduria and Homocystinuria: Type cblC 
     MTHFR Deficiency: Severe 
     Mucolipidosis: Type II 
     Mucolipidosis: Type IV 
     Muscle-Eye-Brain Disease 
     Myotubular Myopathy: X-Linked 
     Nemaline Myopathy: NEB Related 
     Nephrotic Syndrome: Type 1 
     Nephrotic Syndrome: Type 2 
     Neuronal Ceroid-Lipofuscinosis: CLN3 Related 
     Neuronal Ceroid-Lipofuscinosis: CLN5 Related 
     Neuronal Ceroid-Lipofuscinosis: CLN6 Related 
     Neuronal Ceroid-Lipofuscinosis: CLN8 Related 
     Neuronal Ceroid-Lipofuscinosis: MFSD8 Related 
     Neuronal Ceroid-Lipofuscinosis: PPT1 Related 
     Neuronal Ceroid-Lipofuscinosis: TPP1 Related 
     Niemann-Pick Disease: Type A 
     Niemann-Pick Disease: Type B 
     Niemann-Pick Disease: Type C1 
     Niemann-Pick Disease: Type C2 
     Nijmegen Breakage Syndrome 
     Nonsyndromic Hearing Loss and Deafness: DFNB1 Related 
     Ornithine Transcarbamylase Deficiency 
     Ornithine Translocase Deficiency 
     Pendred Syndrome 
     Persistent Mullerian Duct Syndrome 
     Persistent Mullerian Duct Syndrome: Type II 
     Phenylalanine Hydroxylase Deficiency 
     Polyglandular Autoimmune Syndrome: Type I 
     Primary Hyperoxaluria III 
     Primary Hyperoxaluria: Type 1 
     Primary Hyperoxaluria: Type 2 
     Progressive Familial Intrahepatic Cholestasis: Type 2 
     Propionic Acidemia: PCCA Related 
     Propionic Acidemia: PCCB Related 
     Pseudocholinesterase Deficiency 
     Pycnodysostosis 
     Pyruvate Dehydrogenase Deficiency: Autosomal Recessive 
     Pyruvate Dehydrogenase Deficiency: X-Linked 
     Retinitis Pigmentosa: Autosomal Recessive: DHDDS Related 
     Rhizomelic Chondrodysplasia Punctata: Type I 
     Salla Disease 
     Sandhoff Disease 
     SCID: X-Linked 
     Short Chain Acyl-CoA Dehydrogenase Deficiency 
     Sickle-Cell Anemia 
     Sjogren-Larsson Syndrome 
     Smith-Lemli-Opitz Syndrome 
     Spinal Muscular Atrophy: SMN1 Linked 
     Stuve-Wiedemann Syndrome 
     Sulfate Transporter-Related Osteochondrodysplasia 
     Tay-Sachs Disease 
     Tyrosine Hydroxylase Deficiency 
     Tyrosinemia: Type I 
     Usher Syndrome: Type 1C 
     Usher Syndrome: Type 1D 
     Usher Syndrome: Type 2A 
     Usher Syndrome: Type 3A 
     Usher Syndrome: Type IB 
     Usher Syndrome: Type IF 
     Very Long-Chain Acyl-CoA Dehydrogenase Deficiency 
     Walker-Warburg Syndrome 
     Wilson Disease 
     Wolman Disease 
     Zellweger Spectrum Disorders: PEX10 Related 
     Zellweger Spectrum Disorders: PEX1 Related 

Yorum (1)

  • peri Yanıtla

    Bu hastalikla kalbi dayanmis cocuklarin anneleri tedavu ola bilirmi?

    10 Temmuz 2015 - 09:13

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