Term
| Duchenne Muscular Dystrophy |
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Definition
-progressive weakening, wasting of the muscles
-symptoms appear in early life
-no cure, fatal by 30
1/3500 males in US
-disruption of dystrophin |
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Definition
This condition exhibits high expressivity and results from an inhability to produce heme
-low penetrance |
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Definition
| This is an autosomal neurogenerative conditon that exhibits near 100% penetrance |
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Term
| Temperature sensitive gene |
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Definition
-Inactivation of the tyrosinase enzyme results in peripheral pigmentation of the hair of persons wit the recessive condition called Oculocutaneuous Albinism
-Occuring during Meosism, the epigenetic phenomenon inactivates specefic genes through addition of chemical groups
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Definition
| -Occuring after fertilization, this epigenetic phenomenon can result in different phenotypes for female monozygotic twins |
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Definition
| -The only phenomenon listed that occurs in all individuals, regardless of gender or genotype |
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Definition
-Single gene traits
-In a cross between two true-breeding individuals, the offspring will all display the phenotype of one of the parents (the phenotype of the other parent doesn't appear in the progeny) |
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Definition
- The trait is measured quantitatively, through a scale of numbers
-Some of the F2 have different phenotypes than the original parents |
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Term
| Both Mendelian and Polygenic |
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Definition
- The F1 obtain half of their alleles from each parent
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Term
| Niether Mendelian or Polygenic |
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Definition
| The phenotype involves codominance |
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Definition
| Results from nondisjunction involving the sex chromosomes where the abnormal gamete carrying an extra chromosome is used during fertilization |
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Definition
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Definition
| Results from involving a 2n gamete (along with a normal gamete) produced due to disruption in the process of cell division (cytokinesis) during meiosis. |
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Definition
Results from a deletion within a segment of the paternal chromosome 15
-Always feel like they are starving
-poor sexual development in males
-mental retardation and behavioral problems
-The gene involved is imprinted during female meiosis |
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Definition
| Lethal condition that results when cytokinesis fails after the first mitotic division after fertilization |
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Definition
Extra or missing chromosome
RESULT OF - nondisjuction- defect in chromosome separation at anaphase (involves one pair of chromosomes only) |
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Definition
Only produces one egg whereas male meiosis produces 4 sperm
Undergoes an arrest during prophase one
Undergoes an arrest during metaphase one |
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Term
| Reason why trisomic pregnancies increases with age |
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Definition
| Female meiosis undergoes an arrest during prophase one |
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Definition
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Definition
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Definition
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Term
| Robertsonian Translocations |
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Definition
Involves the loss of sequence from the ends of chromosomes
-loss of the short arms of the acrocentric chromosomes, they break at the centromere and are lost, remaining arms fuse together at the centromeres |
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Term
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Definition
| Exchange of material between nonhomologous chromsomes -complete exchange of segments, no gain or loss of chromosomal material- just rearrangement |
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Term
| Inhibition of testis development of in an XY individual |
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Definition
| Only Mullerian duct forms , would appear female, Swyer Syndrome |
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Definition
-Results from a mutation in a receptor that is normally bound by testosterone to DHT
-Results in individuals who have a Y chromosome but appear female (and remain female in adulthood) |
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Term
| 5-alpha reductase deficiency |
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Definition
-Results from a mutation in an enzyme that converts testosterone to DHT
-Results in individuals who begin life as phenotypic females but take on male characteristics at puberty |
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Term
| A translocation of the SRY gene to an X chromosome could result as: |
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Definition
| An individual with tissues representing each sex |
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Term
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Definition
| are basically those qualities where the phenotype articulated is the effect of several alleles. This reasons constant difference as disparate to the discrete variation of monogenic characters and they are further possible to be influenced by ecological aspects. |
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Term
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Definition
| Multifactorial traits are determined by interactions between a gene or genes and the environment, and do not exhibit Mendelian ratios. |
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Definition
| Aneuploidy: alteration of the total chromosome number by the addition or deletion of a single chromosome (not a multiple of the haploid number) |
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Definition
-hemizygous for Xlinked genes, so affected by X linked
recessive traits as often as males.
-narrowing of the aorta can lead to heart disease. |
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Term
| Klinefelter Syndrome (47, XXY) |
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Definition
Many are mosaics have XY & XXY cells in the same
individual. |
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Term
Deletion
Inversion
Duplication
Translocation |
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Definition
Del- chromosomal segment lost
inver- segment put into reverse orientation
dup-segments duplicated
translo- nonhomologous chromosomes swap segments |
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Term
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Definition
-Examines fetal cells, present in amniotic fluid
-16th week of pregnancy
-Used for females over 35
-If previous affected child
-Translocation carrier, X-linked disorder |
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Term
| Chorionic Villus Sampling (CVS) |
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Definition
- 8-10 weeks of pregnancy
-earlier in the pregnancy than amniocentesis.
-More of a risk because its earlier.
-examines cells from a region of the placenta called the chorionic
villus. |
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Term
| Trisomy 13: Patau Syndrome |
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Definition
- mean survival = 6 months
-1/15,000 births
-can result from carriers |
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Term
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Definition
Nondisjunction= defect in chromosome separation at anaphase
-involves one pair of chromosomes only. |
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Definition
the probability that given an individual has a disease associated genotype, that they will have the disease
-the proportion of a population of persons with the disease genotype that have the disease |
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Definition
| Range of variation phenotypes for a disease |
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Term
| Effect of temperature on gene expression |
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Definition
-temperature sensitive mutations (ts)
-siamese cats and himilayian rabits
-light bodies and dark extremities |
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Term
| Leptin and its role in obesity |
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Definition
Without leptin, people don't feel full and continously feel hungry
Leptin--> Hypothalamus--> region of fat conversion rate of energy consumption--> fat cells |
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Term
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Definition
Variation in chromosome number that involves an entire set of chromosomes
ex : triploid- 3 copies 69 chromosomes
HOW IT ARISES- cell division defect, failure during mitiosis or meiosis |
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Definition
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Definition
| Gamete has either an X or Y |
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Definition
-Male development
-Vas deferenes |
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Definition
-Female development
-Fallopian tubes
Y-chromosome absent--> ovaries |
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Term
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Definition
| sex determining region on the Y/ testis determining factor |
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Term
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Definition
a X chromosome is inactivated
-based on the observation that female mice, heterozygous for coat color gene on the X chromosome has a patchy color
-males had even coloration
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Term
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Definition
-baldness, autosomal recessive in females
-autosomal dominant in males |
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Term
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Definition
Silencing of genes from one parent
-occurs during meiosis
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