Chapter 11 Patterns of Chromosomal Inheritance

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1 Inheritance of Chromosomes How many chromosomes did our parents gametes contain when we were conceived? 23, 22 autosomes, 1 sex chromosome Autosomes are identical in both male & female offspring For the sex chromosomes, females possess 2 X chromosomes so they are genetically identical (homologous) Males on the other hand receive 1 X & 1 Y for their sex chromosome pair & even though they align themselves as a homologous pair during metaphase I, they contain vastly different genes & are not true homologues of one another

2 Defects in Inheritance of Chromosomes Non-disjunction Failure of homologous chromosomes to separate during meiosis Where does chromosome separation occur during meiosis? Anaphase I or Anaphase II So what would the resulting gametes look like?

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5 Defects in Inheritance of Chromosomes Aberrations in chromosome # are usually non-viable. Down s syndrome involves an extra chromosome #21, & it is one of the smaller chromosomes This form of trisomy (three copies of a chromosome, monosomy = only one copy of a chromosome) involves one of the smaller chromosome, indicating that having just a little extra genetic material is not good! The other trisomic conditions (with the exception of the sex chromosomes) which are viable births also involve relatively small chromosomes. All other trisomic or monosomic conditions usually results in spontaneous abortions

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9 Chromosomal mutations Permanent genetic changes in chromosome structure Inversions A segment of a chromosome is turned around 180 degrees (backward). This type of mutation will become more evident when we look at how a gene will encode a protein Translocation Movement of a chromosome segment from one chromosome to another nonhomologous chromosome Deletion The loss of a segment of a chromosome Duplication The presence of a chromosomal segment more than once in the same chromosome, due primarily to uneven crossing over, which would lead to a deletion in the other homologue

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11 Inheritance of sex linked traits All is not equal when it comes to inheriting traits located on the sex chromosomes! Why is this SO! Because males inherit one of each sex chromosomes, while females inherit the same sex chromosome So what! Why should this matter? Let s look at the Punnett square!

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13 Inheritance of sex linked traits As we can see, the female will inherit 2 alleles for each trait located on the X chromosome, while the male will inherit only 1 allele for each trait located on the X Why is this such a big deal? Let s look at the transmission of color blindness again!

14 Inheritance of sex linked traits Let s look at the transmission of color blindness again! X B = normal vision, X b = color blind

15 Inheritance of sex linked traits Male children do not have a heterozygous option for traits located on the X, so they either have the genetic disorder or don t have it. They are hemizygous with respect to traits on the X chromosome (possess only one copy of an allele) Females can possess the heterozygote condition & are deemed carriers for the genetic disorder Since male children only receive their X from their mother (they get the Y from Dad by default), male children are at the mercy of their mother s X chromosomes Brings up some unique problems!

16 Inheritance of sex linked traits Brings up some unique problems!

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20 Linked genes Chapter 11 Patterns of Chromosomal Inheritance All the alleles on one chromosome form a linkage group because they tend to be inherited together Hence if we were to take 2 traits: eye color & hair line & place them on the same chromosome, the traits would be transmitted together

21 Linked genes Example: Brown eye = B, Blue eye = b Widow s peak = W, Straight hair line = w Bob is BbWw & Sue is BbWw

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23 PRACTICE QUESTIONS 1. What is non-disjunction? During what stage of meiosis does it occur? 2. Define trisomy? Define monosomy? 3. What is an inversion? Translocation? Deletion? Duplication? 4. Define hemizygous. 5. Sue is a carrier for color blindness & she marries Bob who has normal vision. What percentage of their offspring will be color blind? 6. Sue conceives with Tom instead, who is color blind. What percentage of their offspring will be color blind? 7. Why are linked genes transmitted together? 8. Practice genetic problems on page 503 & 504!

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