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Genetics, Mendel and Units of Heredity
Genetics, Mendel and Units of Heredity

... „ Genetic disorders caused by abnormal chromosome number: ...
Chapter 7 Extending Mendelian Genetics
Chapter 7 Extending Mendelian Genetics

... disease/disorder  The Heterozygous form of these conditions are known as CARRIERS because they do not portray the disease, but can pass it on to the next generation. ...
Genetic Mutations
Genetic Mutations

... formation of a tumor. If a point mutation occurs in a tumor suppressor gene it can become inactivated. This allows the rate of cell division to increase unregulated. ...
29 - Karmayog .org
29 - Karmayog .org

... The DNA molecule are in long thin strands, the strands are in pairs and two strands are joined by cross links like the steps in a ladder. The strands are also coiled in a double spiral (double helix) these strands are the chromosome and small sections of it are known as genes. When egg and sperm uni ...
SBI3U genetics review
SBI3U genetics review

... 21. What is a disorder and a disease that are related to translocation? - Down syndrome is related to translocation between chromosomes 14 and 21. Also cancer could occur if part of chromosome 8 exchanges places with chromosome 14. 22. What is amniocentesis used for? - Amniocentesis is a medical pr ...
Gene Expression, Inheritance Patterns, and DNA Technology
Gene Expression, Inheritance Patterns, and DNA Technology

...  make sure you understand the lac operon!  steps leading to formation of protein in eukaryotic cells ...
Mutations and other genetic problems
Mutations and other genetic problems

... phenylalanine in tissues; lack of normal skin pigment; mental retardation  Cystic fibrosis—excess mucus in lungs, digestive tract, liver; increased susceptibility to infections; often die young ...
Mutations and other genetic problems
Mutations and other genetic problems

... phenylalanine in tissues; lack of normal skin pigment; mental retardation  Cystic fibrosis—excess mucus in lungs, digestive tract, liver; increased susceptibility to infections; often die young ...
Mutations
Mutations

... • Caused by missing or incomplete X chromosome often due to non-disjunction • Women with Turner syndrome are usually sterile and cannot have children • Short in stature, stocky appearance, arms that turn out slightly at the elbow, receding jaw line, short webbed neck, and low hairline • Affects 60,0 ...
sex
sex

... TRANSLOCATION: breaks off a segment from one chromosome and attaches it to another gain-of-function mutation: increases the activity of the gene or makes it active in inappropriate circumstances; these mutations are usually dominant. dominant-negative mutation: dominant-acting mutation that blocks g ...
Chapter 14: Human Inheritance
Chapter 14: Human Inheritance

...  Huntington’s disease  Caused by a dominant allele for a protein found in brain cells  Allele contains a long string of bases in which the codon CAG (glutamine) repeats over and over again – more than 40X  Reason why is unknown  Symptoms of Huntington’s disease do not appear until middle age - ...
Unit 2
Unit 2

...  A sex-linked trait is a trait controlled by genes on the X or Y chromosome. Recall, female is XX and male is XY  Humans have 23 pairs of chromosomes. One set is the sex chromosomes, while the other 22 pairs are autosomes (non-sex chromosomes). If an allele is found on an autosome, it is called au ...
Polygenic Traits
Polygenic Traits

... – Individual allele either adds to phenotype or doesn’t • Effect of each allele is small (but adds up) – Lots of incremental effects create wide range of ...
Meiosis Intro BTR
Meiosis Intro BTR

... Chromosome pairs 1 through 22 are autosomes. Autosomes are chromosomes that contain genes for characteristics not directly related to sex. The two other chromosomes are sex chromosomes, chromosomes that directly control the development of sexual characteristics. In humans, a woman has two X chromoso ...
Quiz 13 Name: 1. Suppose there are two alleles of a gene, called A
Quiz 13 Name: 1. Suppose there are two alleles of a gene, called A

... 4. Disorders caused by recessive, sex-linked (X) alleles should be most commonly expressed in: A) male humans (XY) B) female humans (XX) 5. If we assume that in dogs long legs are dominant to short then, if a heterozygous long-legged dog mates with a homozygous short-legged dog, what is the probabil ...
The Human Genome Chapter 14
The Human Genome Chapter 14

... Cystic Fibrosis is most common among people whose ancestors came from Northern Europe. The disease is caused by a recessive allele on chromosome 7. Most cases of cystic fibrosis are caused by the deletion of 3 bases in the middle of a sequence for a protein. This protein normally allows chloride ion ...
Review Worksheet Exam 3
Review Worksheet Exam 3

... 5. From one of the daughter cells, show the production of gametes via meiosis (you do not need to show the steps of meiosis, just the outcome in terms of chromosome 8 in the gametes.) 6. Label all the cells with diploid (2n) or haploid (n) and indicate whether they are somatic cells or gametes. Chec ...
Notes Unit 4 Part 5
Notes Unit 4 Part 5

...  taken during ____________ when the chromosomes formed (during prophase)  humans have ____ chromosomes that are organized into _____ pairs  each pair has the same _________ of genes but may have different ____________  in each pair, one chromosome comes from _____ and one from _____  sex chromo ...
KEY TERMS Asexual Reproduction: One parent always passes on a
KEY TERMS Asexual Reproduction: One parent always passes on a

... every trait pass on 1 of each gene to offspring by way of meiosis, gamete formation, and fertilization. Thus the first cell of new individual inherits 2 genes for every trait – one from each parent. ...
File
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...  Predicted F2 phenotypic ratio of a monohybrid cross is 3:1  Observed ratios are different to predicted because fertilsation is a random process involving an element of chance ...
Chapter 14 - River Ridge #210
Chapter 14 - River Ridge #210

... 4. It would be great to cure genetic disorders= BUT, if human cells can be manipulated to cure disease, should biologists try to engineer taller people or change their eye color, ect? ...
X chromosome inactivation- Review
X chromosome inactivation- Review

... X-controlling element (Xce) mapped to a 6 kb region in Xist gene and is required for X inactivation  Model- Mutually exclusive binding of blocking factor to Xce on one X, and of initiator factor to Xist on other X  Marsupials and in mice extraembyonic tissues- paternal X always inactivated in fema ...
Human Heredity
Human Heredity

... 4. It would be great to cure genetic disorders= BUT, if human cells can be manipulated to cure disease, should biologists try to engineer taller people or change their eye color, ect? ...
Chromosome mutations
Chromosome mutations

... • almost always lethal when homozygous • often also lethal when heterozygous • example of a viable deletion in humans: Cris-du-chat syndrome • terminal deletion of short arm of one chromosome #5 • can be seen in karyotype analysis as loss of bands/interbands • leads to mental retardation ...
Chapter 14 The Human Genome
Chapter 14 The Human Genome

...  2 of the 46 are sex chromosomes which determine an individual’s sex  Females have two large X chromosomes  Males have 1 X and 1 small Y  44 of the 46 chromosomes are autosomal ...
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Skewed X-inactivation

Skewed X chromosome inactivation occurs when the inactivation of one X chromosome is favored over the other, leading to an uneven number of cells with each chromosome inactivated. It is usually defined as one allele being found on the active X chromosome in over 75% of cells, and extreme skewing is when over 90% of cells have inactivated the same X chromosome. It can be caused by primary nonrandom inactivation, either by chance due to a small cell pool or directed by genes, or caused by secondary nonrandom inactivation, which occurs by selection. Most females will have some levels of skewing. It is relatively common in adult females; around 35% of women have skewed ratio over 70:30, and 7% of women have an extreme skewed ratio of over 90:10. This is of medical significance due to the potential for the expression of disease genes present on the X chromosome that are normally not expressed due to random X inactivation. X chromosome inactivation occurs in females to provide dosage compensation between the sexes. If females kept both X chromosomes active they would have twice the number of active X genes than males, who only have one copy of the X chromosome. At approximately the time of implantation (see Implantation (human embryo), one of the two X chromosomes is randomly selected for inactivation. The cell undergoes transcriptional and epigenetic changes to ensure this inactivation is permanent. All progeny from these initial cells will maintain the inactivation of the same chromosome, resulting in a mosaic pattern of cells in females.
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