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Applied Biology
Chromosomal abnormalities
A normal human karyotype contains 22 pairs of autosomes and one pair of sex chromosomes. Aneuploidies, or changes in chromosome number, are easily detected on karyotypes. In addition to changes in chromosome number, karyotypes can also reveal more subtle changes in chromosome structure. In effect, the normal banding pattern of a chromosome provides a “bar code” that can be translated into a map of the chromosome. Cytogeneticists can then use coordinates on these rough chromosome maps, or idiograms, to identify the positions of structural abnormalities, including deletions, duplications, and translocations, to within a few megabases of DNA.
Tartalomjegyzék
- Applied Biology
- COPYRIGHT PAGE
- I. Cell Biology (Hargita Hegyesi)
- II. Histology (Judit Kiss and Veronika Urbán Duhajdáné)
- III. Reproduction and early development (Hargita Hegyesi)
- IV. Human genetics (Hargita Hegyesi)
- IV.1. Introduction to Genetics
- IV.2. Chromosomes and cytogenetics
- IV.3. Mendelian inheritance
- Genetics terminology
- Probability of inheritance
- Rules of Mendelian inheritance
- Mode of inheritance
- Inheritance of monogenic (Mendelian) disorders
- Monogenic inheritance pattern on pedigree
- Autosomal dominant inheritance (AD)
- Autosomal Recessive Inheritance (AR)
- X-linked inheritance
- X-linked dominant inheritance (XD)
- X-Linked Recessive Inheritance (XR)
- Clinically important human monogenic disorders
- Genetics terminology
- IV.4. Non-Mendelian inheritance
- IV.5. Genetic Mutation
- IV.6. Multifactorial inheritance
- IV.7. Population Genetics
- IV.8. The human genome project: goals and perspectives
- IV.1. Introduction to Genetics
- Bibliography
Kiadó: Akadémiai Kiadó
Online megjelenés éve: 2020
ISBN: 978 963 454 526 2
Hivatkozás: https://mersz.hu/hegyesi-kiss-suhajdane-applied-biology//
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