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BME80H
The Human Genome
50
Biology
Undergraduate 3
11/14/2012

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Term
Duchenne Muscular Dystrophy
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
Term
Porphyria
Definition
This condition exhibits high expressivity and results from an inhability to produce heme 
-low penetrance
Term
Huntington's Disease
Definition
This is an autosomal neurogenerative conditon that exhibits near 100% penetrance
Term
Temperature sensitive gene
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

 

Term
X inactivation
Definition
-Occuring after fertilization, this epigenetic phenomenon can result in different phenotypes for female monozygotic twins
Term
Genomic imprinting
Definition
-The only phenomenon listed that occurs in all individuals, regardless of gender or genotype
Term
Mendelian ONLY
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)
Term
Polygenic ONLY
Definition
- The trait is measured quantitatively, through a scale of numbers 
-Some of the F2 have different phenotypes than the original parents
Term
Both Mendelian and Polygenic
Definition

- The F1 obtain half of their alleles from each parent 

 

Term
Niether Mendelian or Polygenic
Definition
The phenotype involves codominance
Term
Klinfelters
Definition
Results from nondisjunction involving the sex chromosomes where the abnormal gamete carrying an extra chromosome is used during fertilization
Term
Down's Syndrome
Definition
Chromosome 23--perhaps
Term
Triploidy
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.
Term
Prader Willi
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
Term
Tetraploidy
Definition
Lethal condition that results when cytokinesis fails after the first mitotic division after fertilization
Term
Aneuplodies
Definition
Extra or missing chromosome

RESULT OF - nondisjuction- defect in chromosome separation at anaphase (involves one pair of chromosomes only)
Term
Female meiosis
Definition
Only produces one egg whereas male meiosis produces 4 sperm
Undergoes an arrest during prophase one
Undergoes an arrest during metaphase one
Term
Reason why trisomic pregnancies increases with age
Definition
Female meiosis undergoes an arrest during prophase one
Term
Down's syndrome gametes
Definition
14/21, 21
Term
Monosomy 14
Definition
14,-
Term
Translocation
Definition
14/21,-
Term
Robertsonian Translocations
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
Term
Reciprocal Translocation
Definition
Exchange of material between nonhomologous chromsomes -complete exchange of segments, no gain or loss of chromosomal material- just rearrangement
Term
Inhibition of testis development of in an XY individual
Definition
Only Mullerian duct forms , would appear female, Swyer Syndrome
Term
Androgen insensitivity
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)
Term
5-alpha reductase deficiency
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
Term
A translocation of the SRY gene to an X chromosome could result as:
Definition
An individual with tissues representing each sex
Term
Polygenic traits
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.
Term
Multifactorial Traits
Definition
Multifactorial traits are determined by interactions between a gene or genes and the environment, and do not exhibit Mendelian ratios.
Term
Aneuploidy
Definition
Aneuploidy: alteration of the total chromosome number by the addition or deletion of a single chromosome (not a multiple of the haploid number)
Term
Turner Syndrome
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.
Term
Klinefelter Syndrome (47, XXY)
Definition
Many are mosaics have XY & XXY cells in the same
individual.
Term
Deletion
Inversion
Duplication
Translocation
Definition
Del- chromosomal segment lost
inver- segment put into reverse orientation
dup-segments duplicated
translo- nonhomologous chromosomes swap segments
Term
Amniocentesis
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
Term
Chorionic Villus Sampling (CVS)
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.
Term
Trisomy 13: Patau Syndrome
Definition
- mean survival = 6 months
-1/15,000 births
-can result from carriers
Term
How Aneuploidy arises
Definition
Nondisjunction= defect in chromosome separation at anaphase
-involves one pair of chromosomes only.
Term
Penetrance
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
Term
Expressivity
Definition
Range of variation phenotypes for a disease
Term
Effect of temperature on gene expression
Definition
-temperature sensitive mutations (ts)

-siamese cats and himilayian rabits
-light bodies and dark extremities
Term
Leptin and its role in obesity
Definition
Without leptin, people don't feel full and continously feel hungry

Leptin--> Hypothalamus--> region of fat conversion rate of energy consumption--> fat cells
Term
Polyploidy
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
Term
Homogametic
Definition
all gametes have X
Term
Heterogametic
Definition
Gamete has either an X or Y
Term
Wollfian duct
Definition
-Male development
-Vas deferenes
Term
Millenian Duct
Definition
-Female development
-Fallopian tubes
Y-chromosome absent--> ovaries
Term
SRY/TDF
Definition
sex determining region on the Y/ testis determining factor
Term
X-inactivation
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
-
Term
Sex influenced traits
Definition
-baldness, autosomal recessive in females
-autosomal dominant in males
Term
Genomic Imprinting
Definition
Silencing of genes from one parent
-occurs during meiosis
-
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