Impact of IVS8-(TG)m(T)n on IRT and sweat chloride levels in newborns identified by California CF newborn screening.
We examined the relation between the number of (TG) repeats at the (IVS8)-(TG)m(T)5 locus of the CFTR gene with neonatal serum immunoreactive trypsinogen (IRT) and sweat chloride (SC) concentrations in hypertrypsinogenemic infants with genotype ΔF508-9T/5T identified by California cystic fibrosis newborn screening. SC and IRT distributions increased with increasing (TG) repeats.
Ambry Genetics, Aliso Viejo, CA 92656, USA.
Steven
S
Keiles
Ruth
R
Koepke
Richard
R
Parad
Martin
M
Kharrazi
D002140:California / Q000453:epidemiology; D002675:Child, Preschool; D002712:Chlorides / Q000032:analysis*; D003550:Cystic Fibrosis / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004247:DNA / Q000032:analysis; D004252:DNA Mutational Analysis; D005260:Female; D005838:Genotype; D006801:Humans; D015994:Incidence; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D015997:Neonatal Screening / Q000379:methods*; D013542:Sweat / Q000737:chemistry*; D014362:Trypsinogen / Q000032:analysis*
D002712:Chlorides; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D014362:Trypsinogen; D004247:DNA