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Date Created: 07/10/14
141 Human Heredity Human Chromosomes to analyze chromosomes cell biologists 1 photograph cells in mitosis 2 cut out the chromosomes from the photographs 3 group the chromosomes together in pairs karyotype a picture of chromosomes arranged in pairs humans have 46 chromosomes and two of them are sex chromosomes sex chromosomes determine an individual s sex females have two large X chromosomes when males have one X and a small Y chromosome remaining 44 chromosomes are called autosomal chromosomes or autosomes all human egg cells carry a single X chromosome 23 Xhowever half of all sperm cells carry an X chromosome 23X this ensures that just about half of the zygotes will be 46XX and half will be 46XY Human Traits pedigree charts show the relationships within a family squaresmale circle female not shaded does not express the trait shaded does express a trait some of the most obvious human traits are almost impossible to associate with single genes because of two reasons 1 many traits are polygenic 2 many personal traits are only partly governed by genetics Human Genes studying human genetics is difficult because humans have long generation times a complex life cycle and relatively few offsprings the Rh blood group is determined by a single gene individuals with type 0 blood are homozygous for the i allele ii and produce no antigen on the surface of red blood cells many human genes have become known through the study of genetic disorders genetic disorders 0 Phenylketonuria PKU a buildup of phenylalanine caused by an autosomal recessive allele 0 TaySachs disease nervous system breakdown caused by an autosomal recessive allele 0 Achondroplasia a form of dwarfism caused by an autosomal dominant allele 0 Huntington disease a progressive loss of muscle control and mental function caused by an autosomal dominant allele 0 sickle cell disease a serious disorder found in about 1 out of 500 African Americans is caused by a codominant allele From Gene to Molecule in both cystic fibrosis and sickle cell disease a small change in DNA of a single gene affects the structure of a protein causing a serious genetic disorder cystic fibrosis 0 lead to serious digestive problems 141 Human Heredity produce a thick heavy mucus that clogs their lungs and breathing passageways caused usually by the deletion of 3 bases in the middle of a sequence for a protein I this protein normally allows chloride ions to pass across biological membranes 0 sickle cell disease 0 O O O 0 common genetic disorder found in African Americans characterized by the bent and twisted shape of the more rigid red blood cells t hese blood cells get stuck in the capillaries and causes the blood to stop moving through these vessels damaging tissues cells and organs produces physical weakness and damage to the brain heart and spleen hemoglobin is the protein in red blood cells that carries oxygen people who are heterozygous for the sickle cell allele are generally healthy and have a benefit of being resistant to malaria 0 what makes an allele dominant recessive or codominant depends on the nature of a gene s protein product and its role in the cell
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