27 Two types of chromosomes are autosomes and sex chromosomes. Autosomes (#’s total) are chromosomes not involved sex determination.Sex chromosomes (23rd pair) either XX or XY directly involved in sex determination
28 Sex linked traits refers to traits that are carried on the sex chromosomes. Typically sex linked traits are carried on the X chromosome.
30 X-inactivation Female mammals inherit 2 X chromosomes XH XHXh Xh one X becomes inactivated during embryonic developmentcondenses into compact object = Barr bodywhich X becomes Barr body is randompatchwork trait = “mosaic”patches of blackXHXHXhXhtricolor cats can only be femalepatches of orange
31 Multiple allele traits Traits that are controlled by 3 or more alleles of the same gene (blood grouping is controlled by A, B or O alleles
36 Traits that are controlled by several genes (skin, eye, hair color) Polygenic traitsTraits that are controlled by several genes (skin, eye, hair color)AaAAaaAa = 4 genes but 2 alleles (A or a)polygenic has several genes influencing a trait, multiple allele has several alleles influencing a trait.
43 Autosomal recessive disorder Disorders carried on the autosomes, controlled by a recessive allele (therefore you need two recessive alleles to show the disorder)
44 Chromosomal Abnormalities Nondisjunctionchromosomes don’t separate properly during meiosisChromosomal Mutationsdeletionduplicationinversiontranslocation
45 Changes in chromosome structure deletionloss of a chromosomal segmentduplicationrepeat a segmentinversionreverses a segmenttranslocationmove segment from one chromosome to anothererror of replicationerror of crossing over
46 Autosomal Disorders Dominant Recessive Acondroplasia Acromegaly DwarfismLethal in homozygous cond.AcromegalyGigantismOveractive pituitaryHuntington’sDegeneration of nervous systemManifests around 40 years of ageRecessiveAlbinismMelanin pathway mutatedphotosensitivityPhenylketoneuriaCannot break down phenylalanineLead to mental retardationCystic fibrosisCl- channel problemMucus buildupDeath around 40
47 Nondisjunction Cause of aneuploidy (wrong chromosome #) trisomy cells have 3 copies of a chromosomemonosomycells have only 1 copy of a chromosomen+1nnn-1trisomy2n+1monosomy2n-1
50 Down syndromeTrisomy 213 copies of chromosome 211 in 700 children born in U.S.Chromosome 21 is the smallest human chromosomebut still severe effectsFrequency of Down syndrome correlates with the age of the motherTrisomy 13 occurs in about 1 out of every 5,000 live births. It is a syndrome with multiple abnormalities, many of which are not compatible with life. More than 80% of children with trisomy 13 die in the first month. Trisomy 13 is associated with multiple abnormalities, including defects of the brain that lead to seizures, apnea, deafness, and eye abnormalities. The eyes are small with defects in the iris (coloboma ). Most infants have a cleft lip and cleft palate, and low-set ears. Congenital heart disease is present in approximately 80% of affected infants. Hernias and genital abnormalities are common.Trisomy 18 is a relatively common syndrome affecting approximately 1 out of 3,000 live births, and affecting girls more than three times as often as boys. The presence of an extra number 18 chromosome leads to multiple abnormalities. Many of these abnormalities make it hard for infants to live longer than a few months.The cri du chat syndrome is caused by the deletion of information on chromosome 5. It is likely that multiple genes on chromosome 5 are deleted. One deleted gene, called TERT (telomerase reverse transcriptase) is involved in control of cell growth, and may play a role in how some of the features of cri cu chat develop. The cause of this rare chromosomal deletion is not known, but it is expected that the majority of cases are due to spontaneous loss of a piece of chromosome 5 during development of an egg or sperm. A minority of cases result from one parent carrying a rearrangement of chromosome 5 called a translocation. Between 1 in 20,000 and 1 in 50,000 babies are affected. This disease may account for up to 1% of individuals with severe mental retardation. Infants with cri du chat syndrome commonly have a distinctive cat-like cry. They also have an extensive grouping of abnormalities, with severe mental retardation being the most important.
51 Down syndrome & age of mother Mother’s ageIncidence of Down SyndromeUnder 30<1 in 1000301 in 900351 in 400361 in 300371 in 230381 in 180391 in 135401 in 105421 in 60441 in 35461 in 20481 in 16491 in 12
52 Sex Chromosomes Abnormalities Human development more tolerant of wrong numbers in sex chromosomeCause is nondisjunctionBut produces a variety of distinct syndromes in humansXXY = Klinefelter’s syndrome maleXXX = Trisomy X femaleXYY = Jacob’s syndrome maleXO = Turner syndrome female
53 Non-disjunction – failure of homologous chromosomes to separate during meiosis. Results in an aneuploidyKaryotype – Picture of a person’s chromosomes in a somatic cell. Used to detect genetic disorders.Amniocentesis – removal of amniotic fluid and analyze the chromosomes in the cells
54 Rate of miscarriage due to amniocentesis: 1970s data 0.5%, or 1 in 200 pregnancies2006 data <0.1%, or 1 in 1600 pregnancies
55 Pedigree AnalysisA pedigree is a family tree that describes the interrelationships of parents and children across generationsInheritance patterns of particular traits can be traced and described using pedigrees
56 = FEMALE= MALE= FEMALE WITH TRAIT= MALE WITH TRAITOR= DECEASED
60 I II III When describing a person, you write the Generation # a dash (-) then theindividual number1234IIIIIIFor example, II - 2shows the traitorII-1 is the oldest childof the original parents
61 this pedigree shows the occurance of attached earlobes! (shaded in) 1234IIIIIIEarlobesE = Free earlobese = attached earlobeswhat is genotype of I-2?what is genotype of I-1?Can II-1 behomozygous dominant?this pedigree shows the occurance of attached earlobes! (shaded in)
62 draw a pedigree!! lets play ... a mother and a father have 6 kids the first 2 are boys as wellas the youngest. the other 3 are girls.the last malemarried a woman and has 8 girls.