BIMM
Lecture7Hemophiliahumanchromosomes

A chr 1 b chr 16 cchr 22 dchr x human karyogram

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A. Chr. 1 B. Chr. 16 C.Chr. 22 D.Chr. X Human karyogram
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Karyotyping: identifying human mitotic chromosomes using their unique banding Giemsa stain: darker regions are A/T rich, gene-poor human chromosome 4 at varying [email protected] due to exact [email protected] stage, (or degrees of spreading -­૒ squashing -­૒ stretching)
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Clicker question: Can FISH with a fluorescent probe against each of the genetic regions below detect the diseases associated with the gene? FGFR3 – Achondroplasia A. Yes B. No Chromosome 21 – Down syndrome A. Yes B. No Hemophilia, caused by a deletion of Factor VIII gene A. Yes B. No
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Down syndrome (DS) - first described in 1866 by English physician John Langdon Down - Affects 1 in 700 newborns Upward slant to eyes, small, flattened nose, Small mouth, making tongue appear large. Short neck. Small hands with short fingers. Low muscle tone. Down syndrome always involves some degree of mental retardation, from mild to severe, with IQ ranging between 30 and 70. DS contributes to about 30% of all moderate-to- severe cases of mental retardation. 75% of Down syndrome individuals over 60 yrs of age develop Alzheimer-like symptoms. 1.02 min
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Down Syndrome (Trisomy 21) - cytogenetics, a chromosome "spread" In 1959, the French [email protected] Jerome Lejeune showed that DS is associated with an extra chromosome 21
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The main cause of Down syndrome is a meiotic non-disjunction Trisomy 21 (47,XX,+21) is the cause of approximately 96% of observed Down syndrome cases, with 88% coming from non-disjunction in the
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  • Winter '08
  • McGINNIS
  • Down syndrome, average life expectancy, Haemophilia B

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