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Sex Linkage
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Here Comes the Sun King The tale of King Henry VIII and Anne Boleyn
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T.H. Morgan’s Flies Context: 1908 – before anyone knew the link between chromosomes and heredity Working with the fruit fly, Drosophlia melanogaster A model organism for genetics Won the Nobel Prize in 1933 for discovering that chromosomes carried heritable material
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One day in the lab… Was looking at flies, who normally have wild type red eyes, saw a fly with white eyes Wanted to do a breeding analysis to understand about white eyes Did a test cross
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Test Cross A test cross is used to determine the genotype of an individual exhibiting a dominant trait Determine if this individual is homozygous or heterozygous (HH or Hh) How? Cross a dominant phenotype individual to one with the recessive phenotype. By observing the resulting phenotypes, you can figure out the genotype
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Maybe white eyes are lethal in females?
So he crossed them Maybe white eyes are lethal in females?
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I guess not….but what does this have to do with sex?
So he crossed them I guess not….but what does this have to do with sex?
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Morgan’s Results The appearance of white eyes in females shows that this trait is not lethal in females. All possible combinations of white eyes and sex are possible. The white-eye trait can be carried over to females when F1 females are crossed with white-eyed males.
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Did it have to do with chromosomes?
The male and females seemed to have slightly different chromosomes Morgan found that the gene for white eyes seemed to follow the inheritance of sex From these and other crosses, he was able to figure out that genes were carried on chromosomes!
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Recall: Chromosome Structure
10 Each human cell has 46 chromosomes 23 pairs in total 22 are autosomes (not sex chromosomes) 1 pair of sex chromosomes Each pair is homologous (similar but not the same) Females have two X chromosomes, (XX) Males have one X and one Y Chromosome (XY) 10
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X and Y on a Karyotype A Karyotype is an arrangement of the chromosomes of an individual that has been sorted according to size and type
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1st Law: Law of Segregation
Mendel’s law of segregation states that every individual possesses a pair of alleles and passes a randomly selected copy (one or the other) to its offspring.
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The same happens for sex chromosomes
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Sex Linked Inheritance
Autosomal inheritance: inheritance of alleles located on autosomal (non-sex) chromosomes (This is all the inheritance we have dealt with up until now) Sex-linked: describes an allele that is found on one of the sex chromosomes (X or Y) Aa, CDCd XHXh XHY
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Hemizygous XHY XHXh or XHXH
Just like before, females can be homozygous or heterozygous for a trait XHXh or XHXH Males are called hemizygous because they are neither heterozygous nor homozygous. They only have one possibility! XHY
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Sex Linked Problems For example, hemophilia A is a blood disease where it takes a long time for the blood to clot. The gene for hemophilia is located on the X chromosome and is recessive. If a woman carrying the hemophilia allele marries a man who does not have hemophilia, what are the odds their children will have hemophilia?
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How does it work Let XH represent the normal allele
Let Xh represent the allele for hemophilia (Y is the Y chromosome)
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Results 50% of the males are affected
0% of the females are affected, although one is a carrier
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Carrier Carrier: someone who does not have the phenotype of a condition but has the allele for the condition. This usually applies to recessive genes For sex-linked genes, only FEMALES can be carriers.
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Sex-Linked Genes Male Pattern Baldness Located on the X chromosome
Recessive If you are male and your mothers father had it, you will get it. It is rare in females. Why?
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Male Pattern Baldness - P
Let XB represent the normal hair allele, and Xb represent the baldness allele P - Normal Female x Bald Male XBXB x XbY Both sons are normal, both daughters are carriers! Xb Y XB XBXb Carrier Female XBY Normal Male
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Male Pattern Baldness = F1
F1 - Carrier Female x Normal Male XBXb x XBY 100% of females are normal, ½ of sons are normal, ½ of sons are affected Altogether, ¼ of children are affected XB Y XBXB Normal Female XBY Normal Male Xb XBXb Carrier Female XbY Affected Male
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What about a bald female?
It could happen, but you’d need Bald or Carrier Female x Bald Male XbXb or XBXb x XbY There are also Y-linked diseases Obviously, only males can get it. If your dad has it, you will get it Less common because the Y chromosome is smaller and has less genes
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