Категории

Genomic medicine, 2016г.

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Описание

Contents

I. BASICS OF THE HUMAN GENETICS „ Ц

1. The place of genetics and genomics in medicine. - D.Toncheva II

2. Organization of the nuclear DMA in humans - ¥. Ganev 16

2.1. Structure and function of the genes 16

2.2. DMA replication, transcription and recombination 16

2.3. Organization of the genomic DMA ig

2.4. Gene structure and gene expression 24

2.5. Genomic modification by changes in chromatin structure 33

2.6. Genomic modification by a rearrangement of DMA - immunoglobulin genes ............ 35

2.7. Epigenetics _ 35

2.S. Biology and genetics of mitochondria ......44

2.9. Genomics ■ _ 55

3. Population genetics. Variability and evolution of the gene pool - S.

Karachanak, D. Nesheva, D. Toncheva 74

3.1. Genotype and aiiele frequencies 74

3.2. The Hardy-Weinberg law 75

3.3. Human population ancestry ..........73

4. Microscopic and submicroscoplc structure and function of chromosomes

- S. Lalchev, D. Toncheva 80

4.1. Chromosome morphology .........81

4.2. Submicroscoplc organization and function of chromosomes .....83

4.3. Normal human karyotype 88

4.4. Chromosomal heteromorphism 90

II. ETIOLOGY AND DIAGNOSIS OF INHERITED DISORDERS ......................95

5. Etiology of hereditary diseases 95

5.1. Mutagenesis - M. Pesheva, D. Toncheva 95

5.2. Definition and classification of gene mutations - M. Pesheva, D. Toncheva 99

5.3. Phenotypic expression of mutations - M. Pesheva, D. Tontcheva 106

5.4. Germiine and somatic mutations - M. Pesheva, D. Toncheva - 108

5.5. DNA damage and repair mechanisms - M. Pesheva, D. Toncheva 109

5.6. Mitochondrial mutations - S. Lalchev 121

5.7 Chromosomal mutations - S. Lalchev, D. Toncheva 122

6. Diagnostics of genetic diseases 134

6.1. Clinical genealogy method - IVi. Simeonova 134

6.2. Laboratory methods for diagnosis of rare monogenic diseases - D.Nikoiova,

D.Toncheva 271

6.3. Genetic methods for postnatal diagnosis of chromosomal disorders S.Hadjidekova, D.

Toncheva........ 123

III. CLINICAL GENETICS - RARE: DISEASES....................................................... 196

7. Monogenic diseases ■ 196

7.1. Genetic anemias- D. Toncheva, R. Starseva 196

7.2, Congenital metabolic diseases. 215

73. Hereditary diseases of the connective tissue and bone system - M.Simeonova, D.

Toncheva 249

7.3.4. Other diseases with defects in collagen synthesis 260

7.4. Primary immunodeficiency diseases - S. Lalchev 263

7.5.immunodeficiency syndromes 26/

7.6. Predominantly antibody deficiencies 267

7.7. P!D of Phagocytosis 268

7.8. Complement deficiency 270

7.5. Neuromuscular disorders - D. Toncheva, R. Staneva 274

7.6. Monogenic diseases affecting the respiratory system - Toncheva D., S. Hadjidekova

289

7.7-. Hereditary hearing loss and deafness - D. Toncheva, R. Staneva 297

8. Inherited Diseases with dynamic mutations - L Angelova 307

8.1. Huntington disease (HD) 309

8.2. Myotonic dystrophy (DM).... 312

S3. Fragile X syndrome (Martin-Bell syndrome) 315

9. Mitochondria! diseases - S. Lalchev 318

9.1 Leber Hereditary Optic Neuropathy (LHON) .....320

9.2 SV1ERRF syndrome

5.3 MELAS syndrome ^21

9.4 NARP syndrome 322

9.5 Leigh syndrome , , . ..322

3.6 Kearns-Sayre syndrome 322

10. Chromosomal diseases 323

11.1 Genera! characteristics and diagnosis .........323

10.2. Chromosomal disorders resulting from mutations in the sex chromosomes .......... 329

103. Chromosomal disorders due to numerical aberrations of autosomes.....................338

10.4. Chromosomal disorders, connected to structural aberrations of autosomes ...347

11. Contiguous gene syndromes - microdeletion and microduplication

syndromes 351

11.1. Common microdeletion syndromes ................ „352

11.2. Less common microdeletion syndromes .....379

IV. GENOMIC MEDICINE - GENETIC PREDISPOSITION TO COMMON

DISEASES.: „.382

12. General characteristics of multifactorial diseases - D.Toncheva,

E.Becheva; 382

13. Genetic epidemiology. Family, twin and adoptive studies - D.Toncheva,

E.Becheva 389

14.1. Biological importance of polymorphisms 393

14.2. Types of polymorphisms used as genetic markers. .396

15. Genetic predisposition to cardiovascular diseases - ¥. Ganev, D.

Toncheva, R. Staneva - . 399

15.1. Coronary heart disease fCHD) ...400

15.2. Arterial hypertension ..................428

16. Genetic susceptibility to gastrointestinal diseases - D.Toncheva ,

R.Staneva 433

16.2, Mutations that create a predisposition to the development of sporadic colorectal

cancer,... ■ ' 434

16.3. Inflammatory bowel diseases (IBD) 436

17. Genetic factors in endocrine diseases - D. Toncheva, R. Staneva, I.

Dirnova 441

17.1. Diabetes mellitus type 1 (or type I diabetes) 444

17.2. Diabetes mellitus type 2 (or type 2 diabetes) 447

17.3. MODY- диабет (Maturity-onset diabetes of the young ) 451

17.4. Polycystic ovary syndrome (PCOS) ...452

18. Genetics of some psychiatric disorders 456

18.1. Genetic predisposition to schizophrenia - E.Becheva, D.Toncheva 456

18.2. tSenetics of affective disorders - A.Yosifova, E.Becheva 460

18.3. Genetics of Alzheimer's disease (Alzheimer's disease; AD) - 463

19= Genetic predisposition to pulmonary diseases - D. Toncheva, S. Hadjidekova. 473

19.1, Bronchial asthma 473

19.2, Chronic obstructive pulmonary disease 476

20. Genetic definition of overweight - ¥. Ganev, D. Toncheva, R. Staneva

478

20.1. Monogenic forms of obesity ...483

. 20.2. Syndromic obesity 485

23.3, Genome studies of polygenic obesity 486

21. Genetics of cancer diseases. Common characteristics - D.Toncheva 491

22. Genetics of hereditary cancer syndromes 500

22.1. Common genetic characteristics of hereditary cancer syndromes -1. Dirnova, D.

Toncheva 501

22.2. Common characteristics of leukemia -A. Radinov 521

23. Dysmorphoiogy and teratogenesis - R.Tincheva 550

23.2. Syndromes with tall stature 556

23.3. Syndromes with characteristic facial dysmorphism ...3;?.. 557

23.6. Anomalies of the spine, Other anomalies 559

23.7. Developmental anomalies due to teratogenic exposure...., 560

24. Genetics of Autism Spectrum Disorders (ASD) - D. Avdjieva, D.

Toncheva 568

24.1. Autism with unknown genetic causes ....569

24.2. Autism with known genetic defect - Rett's syndrome ...570

24.3. Autism and genetic predisposition 570

24.4. Genetic syndromes comorbid with ASD 571

V. PREVENTION MEDICINE - S, HADJIDEKOVA, D. TONCHEVA................ 575

25. Preimplantation genetic diagnosis » 575

26. Prenatal diagnosis (PD) of monogenic and chromosomal disorders - S.

Hadjidekova, D. Toncheva 580

26.1. Indications for prenatal diagnosis .......581

26.2. Noninvasive methods for PD 0...... ......582

26.3. Maternal serum screening (MSS) 583

26.4. invasive methods for prenatal diagnosis ....587

27. Screening for genetic disease 598

27.1. General principles - D. Toncheva, O. Antonova, S. Lalchev ..599

27.2. Neonatal screening for inborn errors of metabolism - D. Tontcheva, O. Antonova, S.

Laichev . 601

27.3. Biochemical screening during pregnancy ...........605

27.4 Heterozygote testing and carrier screening for autosomal recessive and X-linked recessive disorders - D. Toncheva, O. Antonova, D. Nikolova 605

27.5. Genetic screening for late onset common cancers D. Toncheva, O. Antonova, D.

Nikolova .....608

28. Genetic counselling (GC) - S. Lalchev 612

28.1 Purpose, tasks and organization of the Genetic counselsing 613

28.2 indications for the Genetic counselling 613

28.3 Stages of the Genetic counseling 614

VI. PERSONALIZED MEDICINE............................................................................... 621

29. Essence of Personalized Genomic Medicine - D. Tortcheva

30. Pharmacogenetics - D. Toncheva, S. Atanassova

30.2. Thiopurine-S-Methyltransferase (TPMT)

31. Pharmacogenomics - D. Toncheva, S. Atanassova

31.2. Genetic polymorphisms of transport proteins from Phase III (MDR1)...

32. Targeted therapy era - D. Toncheva, A. Radinov

32.1. Introduction.....

32.2. Biology of targeted therapy

323. Targeted therapy in breast cancer

32.4. Targeted therapy in non-small cell lung cancer

32.5. Targeted therapy in colorectal cancer

32.6. Targeted therapy in gastrointestinal stromal tumors (GIST)

32.7. Therapy of Ph+ chronic myelogenous leukemia fPh+ CIVIL)

32.8. Results from targeted therapy