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Chapter 11. Chromosomes and Human Genetics. Karyotyping. Separating chromosomes for an individual The human chromosomes have been karyotyped to see what normal should look like. Pedigree. A chart showing genetic conditions among individuals. Genetic Engineering.
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Chapter 11 Chromosomes and Human Genetics
Karyotyping • Separating chromosomes for an individual • The human chromosomes have been karyotyped to see what normal should look like.
Pedigree • A chart showing genetic conditions among individuals
Genetic Engineering • Process and study of reconfiguring an organisms genes in order to add or remove a gene.
Aneuploidy • Individual has one less or extra chromosome • Most miscarriages are caused by this
Down’s Syndrome • An extra chromosome appears at location 21. Also called Trisomy 21. • Causes mental retardation and heart defects
Polyploidy • Having three or more of each type of chromosome
Nondisjunction • One or more pairs of chromosomes fail to separate during mitosis or meiosis
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.
Albinism • Absence of pigmentation. • Caused by autosomal recessive inheritance.
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
Color Blindness • Inability to distinguish between some or all colors. • X-Linked recessive inheritance
Hemophilia • Bleeding disease. • Impaired clotting ability. • Caused by X-Linked recessive inheritance.
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.
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.
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