Study on PAH and PTS gene mutations in families with hyperphenylalaninemia
Objective To detect gene mutations in 26 Chinese families with hyperphenylalanin-emia in Hubei Province and to study their genotype,phenotype and genetic characteristics. Methods Blood samples and clinical data of the proband and their parents at Wuhan Children ' s Hospital were collected from March 2018 to December 2020. DNA was extracted from the blood samples. The mutations in the PAH gene and PTS gene were analyzed using PCR and direct sequencing. Meanwhile ,100 healthy individuals who visit-ed our hospital for a physical examination during the same period ,without any obvious abnormalities were se-lected as the normal control group. They underwent the same treatment as the patients. Results Mutatuibs in the 24 PAH gene were detected in the patients,including the most common mutation c.728G>A(R243Q), with a mutation rate of 15.2％(7/46). A new PTS gene mutation,IVS3+9A>G was found,for the first time in this study. PTS mutations P87S,D96N and A111T were identified in the 3 patients with BH4 deficiency. No mutations were detected in the normal control group. Only three mutations were found Q232Q(c.696A>G), V245V(c.735G>A)and L385L(c.1155G>C),all of which are synonymous mutations,that do not change coding amino acids and are likely polymorphisms. Conclusion Mutations in the PAH are responsible for PAH deficiency type HPA,while mutations in the PTS gene cause severe BH4 deficiency. Gene testing can be bene-ficial for clinical diagnosis,selecting a therapeutic regimen,and providing guidance for future procreation.
万方数据
维普
