DrHITDr. Halil Ibrahim Tekin

Kalıtımla Geçen Hastalıkların Taranması (PGD)

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

İnsanoğlunda 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 tarafından taranması önemlidir. Genetik hastalıkların hangilerinin çiftler tarafından taşındığının bilinmesi doğacak olan tüp bebek sonucu oluşan embriyolar üzerinde de bu hastalıkların taranması şansını bize vermektedir. 1400 kadar genetik hastalık oluşturan bozukluk çiftlerde pahalı olmakla beraber taranabilir.

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

Kalıtımla Geçen Hastalıkların Taranması (PGD)

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