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Objective 13 TSWBAT explain how carrier rectognition, fetal testing and newborn screening can be used in genetic screening and counseling. Genetic Testing and Counseling • Genetic counselors can provide information to prospective parents concerned about a family history for a specific disease. • Using family histories, genetic counselors help couples determine the odds that their children will have genetic disorders. • For a growing number of diseases, tests are available that identify carriers and help define the odds more accurately. Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings Fetal Testing • In amniocentesis, the liquid that bathes the fetus is removed and tested. • In chorionic villus sampling (CVS), a sample of the placenta is removed and tested. • Other techniques, such as ultrasound and fetoscopy, allow fetal health to be assessed visually in utero. Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings Amniotic fluid withdrawn Fetal Testing Centrifugation Fetus Fetus Placenta Uterus Placenta Cervix Fluid Fetal cells BioSeveral chemical hours tests Several weeks Several weeks (a) Amniocentesis Karyotyping Chorionic villi Several hours Suction tube inserted through cervix Fetal cells Several hours (b) Chorionic villus sampling (CVS) Newborn Screening • Some genetic disorders such as PKU can be detected at birth by simple tests that are now routinely performed in most hospitals in the United States. • PKU cannot be cured but can be controlled by diet. Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings Degree of dominance Complete dominance Heterozygous phenotype of one allele Example Description same as that of homozygous dominant PP Pp Incomplete dominance Heterozygous phenotype of either allele intermediate between the two homozygous phenotypes C RC R C RC W C WC W Codominance Heterozygotes: Both phenotypes expressed Multiple alleles In the whole population, ABO blood group alleles some genes have more IA , IB , i than two alleles Pleiotropy One gene is able to affect multiple phenotypic characters IAIB Sickle-cell disease : Relationship among genes Epistasis Example Description One gene affects the expression of another BbCc BbCc BC bC Bc bc BC bC Bc bc 9 Polygenic inheritance A single phenotypic AaBbCc character is affected by two or more genes :3 :4 AaBbCc