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Th2L03 Modes of genetic inheritance
Fichas del conjunto (36)
- 1What occurs during meiosis IOne round of DNA replication; 46 > 92 chromosomes
- 2What occurs during meiosis IITwo rounds of cell division the second phase of meiosis consisting of chromatids separating, along with the two diploid cells splitting in two (4 haploid gametes)
- 3What are gameteshaploids cells (23 chromosomes) such as an egg or sperm
- 4Gametes unite during sexual reproduction to produce whata diploid zygote
- 5What is monogenic inheritanceThe manner in which a particular genetic trait or disorder is passed from one generation to the next
- 6Autosomal dominant, autosomal recessive, X-linked dominant, X-linked recessive, multifactorial, and mitochondrial inheritance are examples of whatmonogenic inheritance
- 7What are the characteristics of sperm production (@)Maintained throughout lifetime
From puberty onwards - 8What are the characteristics of oogenesis (4)Largely complete at birth
Suspended in meiosis I
Resumes once a follicle releases its oocyte into the fallopian tube
Then arrests at meiosis II - 9Human non-disjunction rateup to 3 in 100 (if fertilised most are miscarried)
- 10What is the concept of Mendelian inheritanceBasic principles associated with the transmission of genetic material, forming the basis of genetics
- 11What are Mendel's lawsthe law of segregation and the law of independent assortment
- 12What is the law of segregationGenes segregate at meiosis so each gamete gets 1 of the 2 genes from the parent
- 13What is the law of independent assortmentAlleles of different genes assort independently during gamete formation
- 14What is an allelea variant of gene
- 15What is a dominant allelean allele that has the same effect on the phenotype whether it is present in the homozygous or heterozygous state
- 16What is a recessive alleleA hidden allele whenever the dominant allele is present
- 17What are the 3 examples of Non-Medelian inheritanceMitochondrial inheritance
Cytoplasmic
Extranuclear inheritance - 18What makes mitochondrial inheritance non-Mendelian (2)• Mitochondria contain their own circular genome which encodes 13 polypeptides plus rRNA and tRNA
• Mitochondria are inherited exclusively from the mother (sperm cell mitochondria are excluded from the zygote) - 19Mutations in mtDNA affects organs that:Use high amounts of energy (ATP) e.g. muscle and nerve
- 20What are the 3 general characteristics of mitochondrial cytopathyCan affect both sexes but can only be passed on by the mother
Matrileneal
Does not follow any of the autosomal or sex-linked inheritance patterns - 21What are the two types of mitochondrial cytopathyMELAS and LHON
- 22What is MELASa mitochondrial cytopathy resulting in myopathy (disease of muscle tissue), encephalopathy (disease in which the functioning of the brain), lactic acidosis, stroke-like symptoms
- 23What is Leber's hereditary optic neuropathy (LHON)a mitochondrial cytopathy resulting in rapid loss of vision in both eyes typically occurs in adulthood but can occur any time after adolescence
- 24What is pathogenic presentation of Leber's hereditary optic neuropathy (LHON) dependent onenough cells w/ a predominant amount of mutant mitochondria in the eye
- 25What is Cytoplasmic transferHealthy and unhealthy cytoplasm (good + bad mitochondria) then fertilised by IVF
- 26What is the drawback to Cytoplasmic transferCan still pass on unhealthy mitochondria to child
- 27Is Cytoplasmic transfer availableYes but not in the US, banned by FDA in 2001
- 28What are complex disordersMost human characters are not Mendelian but are controlled by genes at more than one locus (polygenic)
- 29What kinds of polygenic traits existDiscontinuous or continuous
- 30What is the feature of discontinuous polygenetic traitsEither is there or it isn't (e.g. type II diabetes mellitus)
- 31What is an example of continuous polygenic traitheight
- 32What are multifactorial traitsPolygenic and influenced environment
- 33What are the four most common disorders showing multifactorial inheritance that currently are the leading causes of death in the developed worldCVD, diabetes mellitus, obesity, mental illness
- 34What is indicated by the term concordance ratethe percentage of twin pairs or other pairs of relatives who exhibit the same disorder; used to assess the contribution made by genetics
- 35What is the threshold zoneliability of an individual to develop a given disorder depends on a combination of the number of predisposing genes and exposure to environmental factors (e.g. diet)
- 36How is the threshold zone for a given disorder determinedBased on a combination of genetic and environmental contributions
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- Creado por Emma Allde · 22 ago 2016
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