Christie Elaine Tam UID: 20125251 !

BBMS2003 Human Genetics "e#i$ree %nal&sis' %((licati)ns

1* +)u are stu#&in$ c&stic ,i-r)sis .C/0* 1hile l))2in$ at a (e#i$ree &)u n)tice that the C/ (hen)t&(e is n)t (resent in a set ), (arents' -ut )ne )ut ), their ,i3e chil#ren has C/* 1hat can &)u c)nclu#e a-)ut C/4 a* The trait is 56lin2e#* -* The trait is aut)s)mal #)minant* c. The trait is autosomal recessive. #* 1e #) n)t ha3e en)u$h #ata t) c)nclu#e an&thin$* 2* +)u are stu#&in$ %le7an#er #isease* %ll (re3i)us (e#i$ree #ata in#icates that this #isease is an aut)s)mal #)minant trait* H)8e3er' &)u n)tice that in )ne instance the trait s2i(s a $enerati)n* I, %le7an#er #isease is aut)s)mal #)minant' 8hat is a li2el& e7(lanati)n as t) 8h& it s2i((e# a $enerati)n this )ne time4 a* S2i((in$ $enerati)ns is c)mm)n in aut)s)mal #)minant traits* -* %le7an#er #isease must -e 1009 (enetrant* c. A new mutation must have been introduced causing Alexander disease. #* :) e7(lanati)ns c)ul# e7(lain this* %le7an#er #isease cann)t -e aut)s)mal #)minant* 3* In stu#&in$ an 56lin2e# #)minant trait' &)u e7amine a ,amil& 8ith se3en chil#ren* :)ne ), the three s)ns has the trait an# all ,)ur #au$hters ha3e the trait* 1hat is a li2el& c)nclusi)n a-)ut the (arents4 a* The m)ther has the 56lin2e# #)minant trait* -* B)th m)ther an# ,ather ha3e the 56lin2e# #)minant trait* c* This mutati)n li2el& ar)se #urin$ mei)sis ), either (arent* d. The father has the X-linked dominant trait. e* 1e #) n)t ha3e en)u$h #ata t) c)nclu#e an&thin$* ;* +6lin2e# #)minant traits are #i,,erent ,r)m )ther #)minant traits -ecause the& are inherite#: a* ,r)m m)thers t) #au$hters )nl&* -* ,r)m m)thers t) s)ns )nl&* c* ,r)m ,athers t) #au$hters )nl&* d. from fathers to sons only. e* -& mechanisms n)t c)m(letel& un#erst))#*

Christie Elaine Tam UID: 20125251 ! True/False

BBMS2003 Human Genetics

1. When both parents are heterozygous for an autosomal recessive trait, neither show the trait, but of their children will. T 2. A Y lin!ed trait will affect only males, appear in every generation "as long as there are sons#, and is always passed from a father to a son. T $. An % lin!ed recessive trait is never seen in females and affects of all the sons of a female carrier. F &. A proband is the first affected person that comes to the attention of a geneticist and from whom a pedigree is initiated. T

Short Answer '. (ist three characteristics of human autosomal recessive traits. the disease tends to s!ip generations) pattern of inheritance is horizontal both se*es are affected roughly 1+& of the offspring of an affected parent are affected

,. (ist four characteristics of % lin!ed recessive traits. affect mostly males) females can be affected but in a milder way than males females don-t usually e*press the condition unless the fre.uency for the mutant allele is high pattern of inheritance is diagonal or criss cross there is no direct male to male transmission

7. Use the following information for questions 21 22. Ability to roll the tongue is caused by a dominant allele. A woman is a roller, but one of her parents is not. What is the woman-s genotype/ a. homozygous dominant b. heterozygous c. homozygous recessive d. cannot be determined from this information 0he woman is e*pecting a child with a man who is a 1nonroller.2 What is the probability that their child will be a 1roller2/ a. 1+& b. 1+$

Christie Elaine Tam UID: 20125251 ! c. $+& d. 1/2 e. 2+$

BBMS2003 Human Genetics

3. 4uggest a mode of inheritance for the trait shown in the pedigree below.

autosomal dominant

5. 4everal members of a family have a very rare form of hearing disorder. You construct the following pedigree. 6ropose a li!ely mode of inheritance and 7ustify your reasoning.

autosomal dominant dominant because inheritance is in every generation) an affected individual has at least one affected parent the condition affects both se*es the mode of inheritance is not * lin!ed dominant because if it is * lin!ed dominant, every daughter of an affected male would be affected, but as the red arrows indicate, this is not the case

18. 9se the following information to draw a pedigree. :uliet and ;ob have two children, :ac! and <orma. <o one in this family is red green color blind, although :uliet sometimes has difficulty passing the color vision part of the driving test. <orma has a color blind son with 0om, who is not color blind.

Christie Elaine Tam UID: 20125251 !

BBMS2003 Human Genetics

Write their genotype for the red green color blindness gene, using % B for the normal allele and Xb for the color blindness allele. :uliet= % %b ;ob= % Y :ac!= % Y <orma= % %b 0om= % Y 4on of <orma and 0om= %bY