Op. Dr. Halil İbrahim Tekin
Anne adayının en duygulu anı bebeklerinin kalp atışlarını duydukları andır
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

Özel Hat

Bu işaret Dr. Halil İbrahim Tekin ile aranızda özel hat anlamına geliyor. Herhangi bir konuda yazmakta tereddüt etmeyiniz. En kısa sürede yanıt alacaksınız.

Son Haberler

Yeni yerimizde yepyeni donanımlar

Gebelik oranları ve PGD için geliştirilmiş en yeni cihaz Piezo-7mm4G ile daha hassas ve başarılı sonuçlar alabiliyoruz.
Cihaz KKTC ve TC'de ilk.

Dünyanın en ağır üçüzlerinden

Dünyanın en ağır üçüzlerinden Aslı, Masal ve Yiğit bebekler. Toplam 8620 gram doğdular. Ebeveynleri Op. Dr. Halil İbrahim Tekin tarafından gördükleri tedavi sonrasında hiçbir komplikasyon yaşamadan doğum gerçekleştirdiler.
Üçüzlere sağlıklı bir ömür diliyoruz.