Diagnosis of BSEP/ABCB11 mutations in Asian patients with cholestasis using denaturing high performance liquid chromatography.

[benign recurrent intrahepatic cholestasis]

To determine if specific mutations were present in Asian patients with progressive familial intrahepatic cholestasis (PFIC ) type 2 caused by defects in bile salt export pump (BSEP ), encoded by ABCB 11 .A combination of denaturing high -performance liquid chromatography (DHPLC ) and direct sequencing was used to screen ABCB 11 mutations in 18 Taiwanese patients with low gamma-glutamyltransferase PFIC or benign recurrent intrahepatic cholestasis (BRIC ). Polymorphisms were also analyzed in patients with PFIC (n = 21 ), neonatal cholestasis (n = 23 ), and control subjects (n = 88 ).Seven mutations in 4 of 16 patients with PFIC from different families were detected by DHPLC , including M 183 V , V 284 L , R 303 K , R 487 H , W 493 X , G 1004 D , and 1145 delC . G 1004 D was found in a patient with BRIC . L 827 I was found in another patient with neonatal cholestasis . Absent or defective BSEP staining was found in the liver of patients with mutations . Polymorphisms V 444 A and A 865 V , with an allele frequencies 75 .6 % and 0 .6 %, respectively , were found in our population . No differences were found between patients with cholestasis and control subjects .One -fourth of Taiwanese patients with PFIC /BRIC had compound heterozygous or single heterozygous ABCB 11 mutations without hot spots . All of the mutations were different from those detected in Western countries .

Diseases
Validation

Diseases presenting "high-performance liquid chromatography" symptom

benign recurrent intrahepatic cholestasis

congenital adrenal hyperplasia

dentinogenesis imperfecta

krabbe disease

neonatal adrenoleukodystrophy

pendred syndrome

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