Biochemical and molecular genetic analyses on placental aromatase (P-450AROM) deficiency.

摘要: Biochemical and molecular genetic studies were made on a case of placental aromatase (P-450AROM) deficiency. Of the enzymes participating in electron transport system microsomes, only activity was decreased specifically patient, being less than 0.3% normal activity. Northern Western blotting analyses showed that transcription gene translation its mRNA proceeded normally placenta this patient. However, cDNA isolated from library patient found to have an insert 87 base pairs, encoding 29 amino acids frame with no termination codon. The located at splicing point between exon 6 intron gene, extra DNA fragment first part 6, except initial GT altered GC. These findings indicated deficiency, did not occur position because mutation consensus sequence forwarded next cryptic pairs downstream according canonical GT/AG rule, resulting abnormal protein molecule acids. During transient expression COS-7 cells, produce trace This is report defect for