1. Chromosomes and Human Genetics Chapter 11

2. Karyotyping Separating chromosomes for an individual The human chromosomes have been karyotyped to see what normal should look like.

3. Pedigree A chart showing genetic conditions among individuals

4. Genetic Engineering Process and study of reconfiguring an organisms genes in order to add or remove a gene.

5. Aneuploidy Individual has one less or extra chromosome Most miscarriages are caused by this

6. Down’s Syndrome An extra chromosome appears at location 21. Also called Trisomy 21. Causes mental retardation and heart defects

7. Polyploidy Having three or more of each type of chromosome

8. Nondisjunction One or more pairs of chromosomes fail to separate during mitosis or meiosis

9. Autosomal Inheritance Recessive - Traits are carried on an autosomal chromosome through a recessive allele Dominant – traits are carried on an autosomal chromosome through a dominant allele.

10. Albinism Absence of pigmentation. Caused by autosomal recessive inheritance.

11. X-Linked Recessive Inheritance The trait is carried on the X chromosome through a recessive allele. These disorders tend to be seen most frequently in males because males only have one X chromosome, and if they receive it, the allele will not be hidden. Hemophilia, colorblindness

12. Color Blindness Inability to distinguish between some or all colors. X-Linked recessive inheritance

13. Hemophilia Bleeding disease. Impaired clotting ability. Caused by X-Linked recessive inheritance.

14. Genetic Mutations Duplication – gene sequences that are repeated several to many hundreds of times. Inversion – DNA sequence reverses. Deletion – loss of a segment of DNA. Can be caused by viruses or environmental factors.

15. Translocation – a broken part of a chromosome becomes attached to a nonhomologous chromosome. Most of these are reciprocal (chromosomes exchange sequences). Leukemia can be caused this way.

16. Works Cited http://homepages.uel.ac.uk/V.K.Sieber/solidktp.jpg http://www.ucl.ac.uk/~ucbhjow/medicine/RGD/images/ped_symb.gif http://www.asklenore.info/miscarriage/print/images/fig3.jpg http://www.biology.iupui.edu/biocourses/n100/images/11nondisjunction.gif http://www.ucl.ac.uk/~ucbhjow/bmsi/lec7_images/47_xx_21.gif http://www.foxnews.com/images/297291/0_61_062507_albino_goat.jpg http://www.humanillnesses.com/original/images/hdc_0001_0003_0_img0234.jpg ricksaphire.com/colorblind/ http://healthresources.caremark.com/Imagebank/Articles_images/Hemophilia.gif