التفاصيل البيبلوغرافية
| العنوان: |
Short Report Co-occurrence of three different mutations in the bilirubin UDP-glucuronosyltransferase gene in a Chinese family with Crigler–Najjar syndrome type I and Gilbert's syndrome. |
| المؤلفون: |
Maruo, Y.1 maruo@belle.shiga-med.ac.jp, Poon, K.K.-H.2, Ito, M.1, Iwai, M.1, Takahashi, H.1, Mori, A.1, Sato, H.1, Takeuchi, Y.1 |
| المصدر: |
Clinical Genetics. Nov2003, Vol. 64 Issue 5, p420. 4p. |
| مصطلحات موضوعية: |
*BILIRUBIN, *GLUCURONOSYLTRANSFERASE, *GENETIC disorders, *MEDICAL genetics |
| مستخلص: |
Maruo Y, Poon KK-H, Ito M, Iwai M, Takahashi H, Mori A, Sato H and Takeuchi Y. Co-occurrence of three different mutations in the bilirubin UDP-glucuronosyltransferase gene in a Chinese family with Crigler–Najjar syndrome type I and Gilbert's syndrome. Crigler–Najjar syndrome type I is a severe form of hereditary unconjugated hyperbilirubinemia and is caused by homozygous or compound heterozygous mutations of the bilirubin UDP-glucuronosyltransferase gene ( UGT1A1). We analyzed the bilirubin UDP-glucuronosyltransferase gene in a female Chinese patient with Crigler–Najjar syndrome type I. Relatives of the patient were also analyzed. The patient was homozygous for a nonsense mutation of R341X. The patient's father, sister and brother, all diagnosed with Gilbert's syndrome, were compound heterozygotes of R341X, P229Q, and an insertion mutation of the TATA box [A(TA)7TAA]. Heterozygotes of nonsense mutations (Q331X and C280X) in our previous study had either Crigler–Najjar syndrome type II or Gilbert's syndrome, but heterozygotes of R341X (mother and grandmothers) were normal. An in vitro expression study of homozygous and heterozygous models of R341X showed 0 and 58%, respectively, of normal enzyme activity. Therefore, the present results indicate that carriers of the nonsense mutation could be normal for plasma bilirubin concentration, Gilbert's syndrome and Crigler–Najjar syndrome type II. The results also suggest the importance of the accumulation of prevalent or polymorphic mutation in the etiology of Gilbert's syndrome and Crigler–Najjar syndrome type II. [ABSTRACT FROM AUTHOR] |
| قاعدة البيانات: |
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