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NAME ___________________________ What Should I Know for the HUMAN GENOME TEST? Chapter 14 Vocab Slide show Chapter ?’s Starts with? Disorders study sheet What is a mutation? What is the difference between a germ cell mutation and a somatic cell mutation? Which of these is passed on to offspring? How can mutations be beneficial? What is a lethal mutation? What is a sex linked gene? How are twins made? How are the two kinds of twins different? What do we call twins that fail to completely separate and are born joined together? What’s the difference between an autosomal and sex linked trait? What is a carrier? Why are X-linked recessive disorders more common in males? What’s the difference between a chromosome mutation and a gene mutation? What’s the difference between a trisomy and monosomy? What causes these? Be able to describe the following genetic disorders. What are the characteristics? What is the cause? Autosomal/Sex-linked? Dominant/recessive? Codominant? Down syndrome; sickle cell disease; Phenylketonuria; Hemophilia; cystic fibrosis; colorblindness; Huntington’s; Duchenne muscular dystrophy; Tay-Sachs; Turner syndrome, Klinefelter’s syndrome; Achondroplasia In which populations are these more common? sickle cell, Tay-Sachs, cystic fibrosis What is unusual about persons heterozygous for sickle cell disease? Be able to give examples of disorders caused by: X linked recessive mutations autosomal recessive mutations autosomal codominant autosomal dominant mutations; nondisjunction What is a Barr body? Why does it form?