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DNA!
DNA!

... trisomy 21 (3 chromosomes at 21 instead of 2) occurs. 2. PKU – tested using a blood sample to look for the presence or absence of certain proteins. This indicated whether a person’s genes are functioning normally. PKU is when a person cannot digest a certain protein in food and the build up can be t ...
Genetics
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... the nucleotide, or building block of the DNA spiral). The number of nucleotides increases from 24 to 39 producing genotypes from 20/24 to 20/39 (the normal being genotype 20/20); The longer the expansion of the alanine tract, the more severe phenotype (clinical manifestation) will arise in the patie ...
Luria/Delbrück
Luria/Delbrück

... ESTHER LEDERBERG’S EXPERIMENT In 1953, Esther and Joshua Lederberg developed a similar technique called replica plating, in which a Petri dish was inoculated with bacteria and incubated until several colonies were visible, and then the colonies were transferred exactly as they were to other plates t ...
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... •Discovered a slow-growing strain & named it poky. ...
Study guideCh8
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Genetic_Meiosis Review_15
Genetic_Meiosis Review_15

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mutation as a source of variation
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mutation as a source of variation
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... Honors Bio: Study Guide: Human Genetics Quiz Text References: 10 (replication, transcription, translation), 12 (human genetics, chromosomes and inheritance) and 13-2 (human genome) ...
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... genes and/or diseases associated with eye or heart appear (not shown). Clicking one of these genes/diseases, ‘myosin binding protein, cardiac; MYBPC3’ in the KMheartDB creates a ‘Gene structure’ window, displaying mutation data of the gene MYBPC3 (Fig. 2, left background). By clicking ‘About this ge ...
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... men of Japanese ancestry [Willcox et al. (2008) Proc Natl Acad Sci USA 105:13987–13992]. However, this finding required replication in an independent population. Here, we have investigated 16 known FOXO3A SNPs in an extensive collection of 1,762 German centenarians/nonagenarians and younger controls ...
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... blocks, A, T, G, and C, which are contained within a long strand. It is the specific sequence of these that controls cell development – this is known as ‘genetics’. Abnormal changes in the sequence are called mutations. DNA also has markers attached to it called methyl groups: These can regulate how ...
Document
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... studying the ratio of male to female mutation rates because in all mammals there are two homologous genes, an X-linked one (Zfx) and a Y-linked gene (Zfy). Shimmin et al. (1993) sequenced the last intron of Zfx and Zfy genes in human, orangutan, baboon, and squirrel monkey. There are only few functi ...
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... radium— the latter proving to be also mutagenic. These results of Muller and of Stadler at last opened the way to an experimental attack on problems having to do with mutation, and they and others began an extensive study of these problems— a study that is still being very actively prosecuted. Mulle ...
unc-40 - UCSF Biochemistry
unc-40 - UCSF Biochemistry

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RNA
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... Ribosomal RNA (rRNA) • Protein synthesis occurs on ribosomes, which are made up of two subunits. • rRNA makes up part of the ribosome. ...
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Frameshift mutation



A frameshift mutation (also called a framing error or a reading frame shift) is a genetic mutation caused by indels (insertions or deletions) of a number of nucleotides in a DNA sequence that is not divisible by three. Due to the triplet nature of gene expression by codons, the insertion or deletion can change the reading frame (the grouping of the codons), resulting in a completely different translation from the original. The earlier in the sequence the deletion or insertion occurs, the more altered the protein. A frameshift mutation is not the same as a single-nucleotide polymorphism in which a nucleotide is replaced, rather than inserted or deleted. A frameshift mutation will in general cause the reading of the codons after the mutation to code for different amino acids. The frameshift mutation will also alter the first stop codon (""UAA"", ""UGA"" or ""UAG"") encountered in the sequence. The polypeptide being created could be abnormally short or abnormally long, and will most likely not be functional.Frameshift mutations are apparent in severe genetic diseases such as Tay-Sachs disease and Cystic Fibrosis; they increase susceptibility to certain cancers and classes of familial hypercholesterolaemia; in 1997, a frameshift mutation was linked to resistance to infection by the HIV retrovirus. Frameshift mutations have been proposed as a source of biological novelty, as with the alleged creation of nylonase, however, this interpretation is controversial. A study by Negoro et al (2006) found that a frameshift mutation was unlikely to have been the cause and that rather a two amino acid substitution in the catalytic cleft of an ancestral esterase amplified Ald-hydrolytic activity.
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