RT Book, Section
A1 Kidd, Judith R.
A1 Kidd, Kenneth K.
A2 Valle, David L.
A2 Antonarakis, Stylianos
A2 Ballabio, Andrea
A2 Beaudet, Arthur L.
A2 Mitchell, Grant A.
SR Print(0)
ID 1181433674
T1 The Population Genetics of PAH
T2 The Online Metabolic and Molecular Bases of Inherited Disease
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9780071459969
LK ommbid.mhmedical.com/content.aspx?aid=1181433674
RD 2024/04/20
AB When  clinical  geneticists  think  about  phenylalanine  hydroxylase  (PAH),  they  think  about  mutations  in  the  gene  causing  phenylketonuria  (PKU)  and  the  other  metabolic  diseases  of  phenylalanine  hydroxylase  deficiency,  their  diagnosis,  and  their  treatment.  When  biochemical  geneticists  think  about  PAH,  they  think  about  metabolic  pathways,  enzyme  activity  levels,  and  metabolic  substrates  and  products.  When  population  geneticists  think  about  PAH,  they  think  about  allele  frequencies  of  disease-causing  mutations  and  normal  polymorphisms  in  different  populations,  the  patterns  of  these  variations  in  the  populations,  and  what  these  frequencies  and  patterns  mean  in  terms  of  disease  gene  and,  more  broadly,  human  evolution.  We  are  population  geneticists,  and  thus  we  will  describe  our  studies  of  normal  variation  in  the  PAH  gene  in  populations  around  the  world.