1. Human Genetics

2. The study of human genetics requires alternative methods
Studies of pedigrees are problematic because human families are small

7. Karyotype Karyotyping is the analysis of chromosomes
Cytogenetics is the study of chromosomes and inheritance
Cytogenetics is based on studies of humans as well as Drosophila and other organisms

8. Preparing a karyotype Harvested cells are first cltured
The cells are then treated with colchicine which arrests the cells in metaphase, and then treated and stained to observe the chromosomes
Chromosomes can be photographed or visualized using a computer, and then analyzed
Chromosomes are identified by size, position of the centromere, and banding and staining regions

15. Why Analyse Chromosomes and Genes
Why Analyse Chromosomes and Genes? Genetic errors arise from deletions or insertions of genetic material, abnormal numbers of whole chromosomes or genes, and even from misplacement of a single base in the DNA sequence.
Genetic abnormalities can range from relatively harmless to severe: from vitamin deficiencies and food allergies to cancer, birth defects and infant mortality.

16. Chromosomal abnormalities
Autosome chromosomal abnormalities
Sex chromosomal abnormalities
Both could be affected in the structure or the number of the chromosomes

17. Abnormalities in chromosome number cause certain human disorders
Polyploidy
Aneuploidy

18. Polyploidy
Polyploidy is the presence of additional sets of chromosomes
Polyploidy is common in plants
Polyploidy is typically lethal in animals
Polyploidy is due to nondisjunction or multiple fertilizations of an egg

19. Aneuploidy B. Aneuploidy is a condition of an extra chromosome
Extra chromosome: trisomic for a particular chromosome
Or a missing chromosome: haploid for that chromosome
Aneuploidies result from nondisjunction during meiosis or mitosis

20. Down syndrome
Persons with Down syndrome are usually trisomic for chromosome 21
Down syndrome is a relatively common chromosomal abnormality
Morphological characteristics include differences in the face, tongue, and hands, and individuals are mentally retarded
Down syndrome is typically caused by a trisomy of chromosome 21, usually caused by nondisjunction during oogenesis

21. 4. Down syndrome is much more common in babies with older mothers, perhaps because an older woman is less likely to spontaneously abort a Down fetus
5. Affected individuals may vary in the severity of their symptoms
6. Other trisomies are typically inviable, as are monosomies

24. Sex chromosomal abnormalties
Most sex chromosome aneuploidies are less severe than autosome abnormalities

25. Klinefelter syndrome
Individuals with Klinefelter syndrome have an XXY karyotype
Klinefelter males have small testes and are often sterile
Klinefelter males are often tall and have female-like breast development; about half are mentally impaired

26. Turner syndrome
Persons with Turner syndrome have only one X chromosome and no Y chromosome
Turner syndrome females are designated as XO, and have undeveloped reproductive structures and are sterile
No Barr bodies are apparent in persons with Turner syndrome

27. XYY Disorders Some essentially normal males have an XYY karyotype
Persons with an extra Y chromosome are fertile, phenotypically male, and often are very tall and have acne

28. Aneuploidies usually result in prenatal death
Chromosome abnormalities are relatively common at conception but usually result in a miscarriage
Approximately 20% of all pregnancies may be spontaneously aborted, often due to major chromosomal abnormalities

29. Abnormalities in chromosome structure cause certain disorders
Translocation
Translocation is attachment of part of a chromosome to a nonhomologous chromosome
This is the cause of approximately 4% of Down syndrome

31. Deletion A deletion is loss of part of a chromosome
Most large deletions are nonviable
An example of a deletion is the cri-du-chat syndrome

33. Fragile sites
Fragile sites are weak points at specific sites in chromatids
Fragile sites appear to be held together by thin strands of chromatin
Fragile X syndrome is a relatively common cause of mental retardation, particularly in males