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Unit 6 – Genetic Abnormalities Test Crosses, Pedigrees, Mutations Define mutation Mutation: any mistake of change in the DNA sequence Point mutation: change in one nitrogen base in DNA; Ex: albinism Describe common mutation types. Chromosomal mutation: part of a chromosome is lost, added, or moved to another chromosome; usually not passed on because zygote dies Crossing over: occurs when chromosomes exchange genes. Two chromosomes overlap. Some genes cross over and switch places Define nondisjunction and identify the types of nondisjunction Nondisjunction: occurs when a chromosome pair fails to separate properly during meiosis Monosomy: when gamete has one less chromosome than it should, when it joins with another gamete the zygote would have only 45 chromosomes Ex: Turner syndrome Types of nondisjunction Trisomy: when gamete has one more chromosome than it should; when it joins with another gamete, the zygote would have 47 chromosomes Ex: Down’s syndrome, extra #21 Describe methods of detection Ultrasound: sound waves are used to generate an image of the unborn child. Used to detect abnormalities of limbs, organs, etc. Also called sonogram Amniocentesis: fluid surrounding the fetus is drawn out by needle, fetal cells are collected and grown in a lab. Chromosomes can be then karyotyped Chorion villi sampling: a sample of the chorion (membrane surrounding fetus) is taken, chemical tests and karyotyping are performed Karyotyping: pictures of chromosomes are matched up according to size Quiz 1 A ___ mutation occurs when part of a chromosome is lost. a. chromosomal b. crossing over c.point 2. In ___ a gamete has one less chromosome than it should . a. disomy b. monosomy c. trisomy 3. ___ occurs when chromosomes overlap and genes change places. a. chromosomal b. crossing over c. point 4. In ___ a needle withdraws a small amount of fluid from around the fetus for testing. 1. a. amniocentesis 5. b. chorion villi sampling c. ultrasound In ___ pictures of chromosomes are cut out and matched up in pairs. a. DNA fingerprint b. karyotyping c. ultrasound Interpret testcrosses (14-1) Testcross: way of determining genotype Cross individual of unknown genotype with homozygous recessive If all offspring resemble “unknown” then it is homozygous dominant If some offspring resemble homozygous recessive parent, unknown is a hybrid Testcrosses are used in breeding plants and animals if a certain offspring is needed Interpret pedigrees Pedigrees: graphic representation of family tree Symbols identify sex, if they are carriers, if they have a certain trait, etc. May be used if testcross cannot be made