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Slide 1
Slide 1

... A DNA segment has information for making the protein hemoglobin, which carries oxygen in your red blood cells One allele will give information for producing normal hemoglobin -Another allele (ONLY 1 base different) produces hemoglobin with 1 different amino acid This difference makes the hemoglobin ...
Simple Mendelian Inheritance of Human Trait
Simple Mendelian Inheritance of Human Trait

... • Form of dwarfism • Inherited as an autosomal dominant disorder • Affects approximately 1 in 10,000 people • Skeletal cartilage does not form properly • Have abnormally short arms & legs relative to other body parts ...
Pedigree and Karyotype Power point
Pedigree and Karyotype Power point

... normal lives, but they can not have children and some may have some degree of mental retardation. ...
Lecture 01. The subject and the main tasks of Medical Genetics
Lecture 01. The subject and the main tasks of Medical Genetics

... of action, of mutations at individual loci); •multifactorial traits (diseases or variations where the phenotypes are strongly influenced by the action of mutant alleles at several loci acting in concert); •chromosomal abnormalities (diseases where the phenotypes are largely determined by physical ch ...
(Barr Body).
(Barr Body).

... *Someone with a mutation in the SRY gene can develop into a female even though there are SRY and the Y chromosome are present. * In rare cases, the SRY gene can be transferred to the X chromosome by chromosomal crossover during the ...
105.1 Lastowska
105.1 Lastowska

... suggesting that this region includes a gene, or genes, critical for tumour pathogenesis. Because the shortest region of 17q gain (SRG) encompasses >300 genes, it precludes the identification of candidate genes from human breakpoint data alone. However, mouse chromosome 11, which is syntenic to human ...
File - LC Biology 2012-2013
File - LC Biology 2012-2013

... In most normal cases the cells can repair this damage, but sometimes a mutation can occur Unprotected exposure to UV radiation by the human skin can lead to skin cancer and ...
Sex chromosome
Sex chromosome

... ZW system, all offspring of parthenogenesis are male Why? ...
Multiple-choice Questions:
Multiple-choice Questions:

... Section A: Multiple-choice Questions (20%) 1. X-linked recessive inheritance A. An affected male will have daughters who are all carriers B. Are transmitted by carrier females C. Show female to male transmission D. Hemophilia is an example E. Down syndrome is an example 2. In Duchene muscular dystro ...
Document
Document

... For X-linked genes: If a+/a- mammals are functional mosaics of a+ & a- cells …are all non-functional X-linked alleles (a-) semi-dominant? (dominance depends on how phenotype is operationally defined) ...
Chromosome Theory of Inheritance -States that genes or alleles
Chromosome Theory of Inheritance -States that genes or alleles

... females have one sex chromosome x. Are females but sterile. Is the only monosomic condition in humans -Klinefelter Syndrome: Aneuploid condition in which a male posses the sex chromosomes XXYare male but sterile ...
Sex Determination
Sex Determination

... If the organism does not have an active SRY gene, which encodes testis determining factor, it will develop into a female, even though it is genetically male. If the organism does not have an active MIS gene, Mullerian (female) ductal structures will form, but the external genitalia will be normal. A ...
Controlling the Code: molecules at work
Controlling the Code: molecules at work

... typically not expressed. Taking this a step further, one X chromosome in female mammals is highly compacted and almost entirely inactive. This X chromosome inactivation occurs during early embryonic development. One of the two X chromosomes in each cell is inactivated at random. The inactivation is ...
Sex Determination
Sex Determination

... If the organism does not have an active SRY gene, which encodes testis determining factor, it will develop into a female, even though it is genetically male. If the organism does not have an active MIS gene, Mullerian (female) ductal structures will form, but the external genitalia will be normal. A ...
Sex Determination -
Sex Determination -

... If the organism does not have an active SRY gene, which encodes testis determining factor, it will develop into a female, even though it is genetically male. If the organism does not have an active MIS gene, Mullerian (female) ductal structures will form, but the external genitalia will be normal. A ...
Chromosomal Basis of Inheritance
Chromosomal Basis of Inheritance

... • Males produce sperm either X or Y • Females produce eggs all X • Offspring’s sex determined the moment of conception – X sperm fertilizes egg = female ...
chapter 13 lecture slides
chapter 13 lecture slides

... females have 2 X chromosomes and males have only 1 • In each female cell, 1 X chromosome is inactivated and is highly condensed into a Barr body • Females heterozygous for genes on the X chromosome are genetic mosaics ...
Traits: The Puppeteering of Genetics
Traits: The Puppeteering of Genetics

... Example include height, weight, and skin color, cancer risk, or any trait in which multiple factors come into play (generally quantitative values) ...
X-inactivation
X-inactivation

... Someone with a mutation in the SRY gene can develop into a female even though there are SRY and the Y chromosome are present. In rare cases, the SRY gene can be transferred to the X chromosome by chromosomal crossover during the production of sperm, and the resulting XX individual ...
Single gene disorders
Single gene disorders

... patients can then survive for many decades with a stable but severe neurological disability.  Most cases caused by spontaneous mutations in an X-linked MECP2 gene encoding methyl CpG binding protein 2. ? Thought to reflect abnormalities in regulation of genes in developing brain. ...
Cloze passage 3
Cloze passage 3

... n) The building blocks for DNA are called …………………. o) The twisted shape of a DNA molecule p) A biologist who worked with fruit fly to identify sex-linkage q) The features or traits of an organism are controlled by both genes and the ……………. r) The base complementary to thymine s) A model we used to r ...
X-inactivation
X-inactivation

... The genetic facts that helped formulate the hypothesis: • X0 mice are normal fertile females (One X is enough). • Female mice heterozygous for coat colour ...
Document
Document

... Disorder which is produces by a single dominant allele, no symptoms until individual is in their 30’s or 40’s ________________15. Caused by a point mutation (substitution) that changes one amino acid in the polypeptide ________________16. XO is called ________________17. XO is an example of a disord ...
Chapter 12B - Power Point Presentation
Chapter 12B - Power Point Presentation

... Male Pattern Baldness – check your maternal grandfather! Hemophilia – “bleeder’s disease” – a ‘royal’ problem ...
14.1 Human Chromosomes 392-397
14.1 Human Chromosomes 392-397

... B. The X is smaller than the Y. C. The Y carries fewer genes than the X. D. Only females have a Y. 8. All human cells carry A. at least one X chromosome. B. at least one Y chromosome. C. a pair of X chromosomes. D. one X and one Y chromosome. ...
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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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