RT Book, Section
A1 Pyeritz, Reed E.
A2 Papadakis, Maxine A.
A2 McPhee, Stephen J.
A2 Rabow, Michael W.
A2 McQuaid, Kenneth R.
SR Print(0)
ID 1193140191
T1 Genes in Individuals
T2 Current Medical Diagnosis & Treatment 2023
YR 2023
FD 2023
PB McGraw-Hill Education
PP New York, NY
SN 9781264687343
LK accessmedicine.mhmedical.com/content.aspx?aid=1193140191
RD 2024/10/06
AB For  some  quantitative  traits  such  as  adult  height  or  serum  glucose  concentration  in  normal  individuals,  it  is  difficult  to  distinguish  the  contributions  of  individual  genes;  this  is  because  in  general,  phenotypes  are  the  products  of  multiple  genes  acting  in  concert,  and  obviously  influenced  by  the  environment  and  chance.  However,  if  one  of  the  genes  in  the  system  is  aberrant,  a  major  departure  from  the  “normal”  or  expected  phenotype  might  arise.  Whether  the  aberrant  phenotype  is  serious  (ie,  a  disease)  or  even  recognized  depends  on  the  nature  of  the  defective  gene  product  and  how  resilient  the  system  is  to  disruption.  The  latter  point  emphasizes  the  importance  of  homeostasis  in  both  physiology  and  development—many  pathogenic  variants  go  unrecognized  because  the  system  can  cope,  even  though  tolerances  for  further  perturbation  might  be  narrowed.