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Human Genetics

Human Genetics. Sagi Josefsberg, MD Clinical Genetics Institue Kaplan Medical Center. Techniques. Cytogenetics Molecular biology Biochemical analysis. Old and new cytogenetics. Cytogentics Molecular cytogenetics FISH M-FISH/SKY CGH Array CGH.

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Human Genetics

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  1. Human Genetics Sagi Josefsberg, MD Clinical Genetics Institue Kaplan Medical Center

  2. Techniques • Cytogenetics • Molecular biology • Biochemical analysis

  3. Old and new cytogenetics Cytogentics Molecular cytogenetics FISH M-FISH/SKY CGH Array CGH

  4. Preparation of a karyotype.

  5. G-banded metaphase spread

  6. normal male karyotype

  7. FISH

  8. From chromosomes to DNA

  9. Fluorescence in situ hybridization A DNA probe finding its target “in place”

  10. Unique Sequence Probes Metaphase & interphase Refined region specific detection Chromosome enumeration

  11. Clinical: cardiac, facial and immune anomalies Cytogenetics: 46, XX del(22q11.2) Frequency: 1/4,000 DiGeorge/VCFS

  12. Whole chromosome paints Metaphase studies Chromosome identification Marker analysis

  13. CMA comparative microarray analysis Chromosome painting showing two normal number 17 chromosomes and a small ring 17 chromosome (arrowed)

  14. DNA Arrays CMA Comparative Microarray Analysis CGH Comparative Genomic Hybridization Genetic Chip aCGH Array CGH

  15. CGH ratio profiles for the CGH analysis shown. The vertical lines adjacent to each chromosome show fluorescence ratios of 0.5 to 1.5 between test and control DNA.

  16. CMA Methodology

  17. Array CGH

  18. CMA Technology

  19. aCGH examples

  20. 20 21 22 X Loss Gain Trisomy 21 (Down syndrome) Karyotype

  21. DIGEORGE SYNDROME/VCFS

  22. Deletion chromosome 1p (short arm) FISH Loss Gain

  23. Normal chromosome 6‏ Partial duplication of chromosome 6‏

  24. About resolution Chromosome G banding 5 – 10Mb Array CGH 1kb – 1Mb* *The resolution of the array is limited only by the size of the cloned DNA target and the distance between these sequences located on the chromosome

  25. הכרומוזומים • לזכר 46XY ( 22 זוגות+זוג כ.המין ) • לנקבה 46XX ( " " " " ) החומר הגנטי • ( חלבון )DNA –RNA—PROTEIN • החלבון = התוצר הסופי המתפקד.

  26. DNA RNA PROTEIN

  27. 3%-2% מהילודים סובלים ממחלה שלמרכיב הגנטיבה יש משמעות חשובה (Genetic Factor Play an Important role ). • מחלות גנטיות אחראיות ל- 50% מתמותת ילדים Childhood Deaths)). • מחלות גנטיות אחראיות לעד 30% מהאשפוזים בילדות. • עד גיל 25 5% מהאוכלוסייה סובלת ממחלה שלמרכיב הגנטי בה משמעות חשובה.

  28. בגנום ההומני קיימים בין 20,000-25,000 גנים. • לאדם הבריא 46 כרומוזומים ועל כל אחד מהכרומוזומים הללו יושבים אלפי גנים. • במידה ויש בעיה במספר הכרומוזומים או במבנה הכרומוזומים או במבנה הגן התקין, הדבר גורם למחלה.

  29. Chromosomal abnormalities

  30. Down Syndrome 47,XY,+21

  31. Down - Trisomy 21

  32. תסמונת דאון

  33. Common findings in Down syndrome • Newborn period Hypotonia, sleepy, excess nuchal skin • Craniofacial Brachycephaly, epicanthic folds, protruding tongue, small ears, upward sloping palpebral fissures • Limbs Single palmar crease, small middle phalanx of fifth finger, wide gap between first and second toes • Cardiac Atrial and ventricular septal defect, common atrioventricular canal, patent ductus arteriosus • Other Anal atresia, duodenal atresia, Hirschsprung disease, short stature, strabismus • IQ 25-75 • Happy and affectionate • Short stature • Alzheimer disease • 1/600-700

  34. טריזומיה 13,18

  35. טריזומיה 18 מבנה כף היד Clenched = כף יד קפוצה.

  36. TRISOMY 13

  37. גפיים תחתונות בתינוק עם טריזומיה 13

  38. Sex Chromosomal abnormalities

  39. Turner Syndrome 45,X0

  40. נערה עם טרנר ואחותה

  41. Turner 45X0

  42. Turner Syndrome

  43. Clinical Findings in Turner Syndrome and Their Incidence Finding Approximate Incidence(%) Short stature 100 Short neck 40 Scoliosis 35 Characteristic facial features 35 Webbed neck 25 Low posterior hairline 42 Edema of hands/feet 22 Ovarian failure 95 Infertility 99 Moles 25 Heart abnormalities 55 Kidney abnormalities 39 Thyroid disease 35

  44. Turner growth chart

  45. Klinefelter Syndrome • 47,XXY • 1 in 1000 male live births • Slightly taller • Gynecomastia • Infertile • Clumsiness • Delayed speech • Mild learning difficulties

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