The effect of inbreeding on the distribution of compound heterozygotes: a lesson from Lipase H mutations in autosomal recessive woolly hair/hypotrichosis.

@article{Petukhova2009TheEO,
  title={The effect of inbreeding on the distribution of compound heterozygotes: a lesson from Lipase H mutations in autosomal recessive woolly hair/hypotrichosis.},
  author={L. I. Petukhova and Yutaka Shimomura and Muhammad Wajid and Prakash Gorroochurn and Susan E. Hodge and Angela M. Christiano},
  journal={Human heredity},
  year={2009},
  volume={68 2},
  pages={117-30}
}
Autozygosity mapping in consanguineous families has proven to be a powerful method for identifying recessive disease genes. Using this technique with whole genome SNP data generated from low density mapping arrays, we previously identified two genes that underlie autosomal recessive woolly hair (ARWH/hypotrichosis; OMIM278150), specifically P2RY5 and Lipase H (LIPH). In the current study, we sought to identify a novel disease locus for ARWH/hypotrichosis by analyzing two large consanguineous… CONTINUE READING

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