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BIOpart2
chormo. aberrations.ect..
| Question | Answer |
|---|---|
| 3 autosomal trisomeies | down's syndrom (trisomy 21)Edward's syndrom (trisomy 18)Patau Syndrom (trisomy 13) |
| what is mosaicism? | when cells of individual have a different genetic make up. |
| most trisomies are caused by what? | non disjuction during meoisis |
| what is X inactivation? | is a dosage compensation mechanism |
| where does x inact. happen from | female embryonic development. 1 of the 2 copies of x chromosome will be inactivated |
| Chimersim? | form of mosaicism, but caused by fusion of two zygotes |
| what is the SRY portion of the Y chromosome? | SRY is the Sex determing region of the Y chromosome. essential for maleness. |
| what is Kleinfelters Syndrom? | seen with ind. who are XXY. |
| result of Kleinfelters syndrom? | phenotypic male but affect with infertility |
| What is turners syndrom | is XO female |
| charateristics of turners | sterility, webbed neck, cardic deformities |
| what could cause an ind. who has Y chromosome to be phenotypically male? | Swyers syndrom. mutations in SRY that render it |
| in which of the following would you expect X inactivation to occur? | XX, XXX,XXY. All of them |
| name 3 structuarl aberrations involving one chromosome | inversionsdeletionsduplications |
| 2 structual aberrations that involve 2 chromosomes. | translocationsinsertions |
| could a structural aberration lead to one of the 3 autosomal trisomy phenotypes? | structural aberrations can lead to syndroms as seen in certain trisomies. |
| unit of hereditary info | gene |
| alternate from of a gene | allele |
| position of gene on a chromosome | loci |
| in a heterozygote, dominate allele is expressed over the recessive allele | dominant |
| allele that is masked by dominant allele | recessive |
| the alleles for a trait that an ind. has are the same such as HH or hh | homozygous |
| allels for trait that ind. are carrying are different. Hh | herterogyous |
| genetic makeup of organism. | genotype |
| expression of a genogype | phenotype |
| name two lethal diseases that are carried onm autosomal dominant alleles | achondroplasiahuntington's disease |
| how are alleles able to be maintained in a population | achondroplasia maintained bc it is only lethal as homozygous dominant. spontanteously aborted |
| 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 |
Created by:
Mollie28
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