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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