And Daddy Makes 3

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And Daddy Makes 3

• Impact of paternal MTHFR 677CT mutation on facial
  clefts

Sam Christensen, Phillip Fletcher, Tripti Pawar,
Dianna Grochova, Marie Tolarova
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• Historically, research in this area has focused
  on the mother and affected child.

• This pilot study attempts to look at the
  genotypes of the fathers of affected children and
  examine the paternal genetic contribution with
  respect to MRHFR polymorphism.

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• We selected 36 families where a child was the
  only individual affected with cleft in the
  extended (3 generations) family, and both parents
  we unaffected.

• DNA isolated from blood spots and amplified using
  PCR

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• Presence of DNA verified using agarose gel

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• Genotypes determined using PAGE

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• Crunched the numbers

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• Crunched the numbers

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Conclusion

• The results of our pilot study suggest a much
  stronger paternal genetic contribution of MTHFR
  677CT polymorphism to the etiology of
  non-syndromic clefts in Guatemala than expected.

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Next Step

• Further study on a larger sample and on a
  control population