LS4 Lect_16

LS4 Lect_16 - MstII site is CCTNAGG probe In this case, the...

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MstII site is CCTNAGG probe
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In this case, the RFLP does not cause the D mutation, but is linked to the D locus.
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What are the genotypes of the family members? Hemophilia ---- X-linked disease
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7 kb 5 kb Southern analysis of an RFLP which is tightly linked to the hemophilia gene (assume no recombination occurs). H Y H h H - H Y h Y H - Which RFLP alleles are associated with which hemophilia alleles? Hemophilia --- X-linked disease
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Mother: Father: X X X’ H 5 kb 7kb h H 5 kb probe
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An RFLP in the disease gene which is not associated with the actual mutation can also be used for disease diagnosis. Dad Mom Affected Fetus child 5 kb 7 kb 3 kb Problem: An unaffected couple comes in for genetic counseling. Their ±rst child is affected with cystic ±brosis (recessive autosomal). Will their fetus be affected? You probe with an RFLP 1kb upstream (5’) of the CF gene. cf /cf ? ? CF/cf CF/cf
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Father: X X X’ cf 5 kb 7kb CF CF 5 kb probe cf cf cf cf CF CF CF CF cf /cf ? ? CF/cf
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LS4 Lect_16 - MstII site is CCTNAGG probe In this case, the...

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