chormo. aberrations.ect..
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| 3 autosomal trisomeies | down's syndrom (trisomy 21)Edward's syndrom (trisomy 18)Patau Syndrom (trisomy 13)
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| what is mosaicism? | when cells of individual have a different genetic make up.
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| most trisomies are caused by what? | non disjuction during meoisis
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| what is X inactivation? | is a dosage compensation mechanism
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| where does x inact. happen from | female embryonic development. 1 of the 2 copies of x chromosome will be inactivated
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| Chimersim? | form of mosaicism, but caused by fusion of two zygotes
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| what is the SRY portion of the Y chromosome? | SRY is the Sex determing region of the Y chromosome. essential for maleness.
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| what is Kleinfelters Syndrom? | seen with ind. who are XXY.
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| result of Kleinfelters syndrom? | phenotypic male but affect with infertility
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| What is turners syndrom | is XO female
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| charateristics of turners | sterility, webbed neck, cardic deformities
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| what could cause an ind. who has Y chromosome to be phenotypically male? | Swyers syndrom. mutations in SRY that render it
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| in which of the following would you expect X inactivation to occur? | XX, XXX,XXY. All of them
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| name 3 structuarl aberrations involving one chromosome | inversionsdeletionsduplications
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| 2 structual aberrations that involve 2 chromosomes. | translocationsinsertions
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| could a structural aberration lead to one of the 3 autosomal trisomy phenotypes? | structural aberrations can lead to syndroms as seen in certain trisomies.
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| unit of hereditary info | gene
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| alternate from of a gene | allele
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| position of gene on a chromosome | loci
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| in a heterozygote, dominate allele is expressed over the recessive allele | dominant
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| allele that is masked by dominant allele | recessive
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| the alleles for a trait that an ind. has are the same such as HH or hh | homozygous
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| allels for trait that ind. are carrying are different. Hh | herterogyous
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| genetic makeup of organism. | genotype
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| expression of a genogype | phenotype
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| name two lethal diseases that are carried onm autosomal dominant alleles | achondroplasiahuntington's disease
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| how are alleles able to be maintained in a population | achondroplasia maintained bc it is only lethal as homozygous dominant. spontanteously aborted
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| how is huntingtons dis. abled to be maintained? | doesnt occur until after ind. has passed sexual maturity, so an affected individual could potentially pass the allele on to offspring
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