https://scholars.lib.ntu.edu.tw/handle/123456789/143895
標題: | A novel IGnT allele responsible for the adult i phenotype | 作者: | Lin, Marie Hou, Min-Ju Yu, Lung-Chih |
公開日期: | 2006 | 卷: | 46 | 期: | 11 | 起(迄)頁: | 1982-1987 | 來源出版物: | Transfusion | 摘要: | BACKGROUND: The adult i phenotype has been characterized as the presence of a very low level of I antigen but a high quantity of I antigen on red blood cells (RBCs). It has been noted that this rare phenotype is partially associated with congenital cataracts. It has been demonstrated that the human I locus expresses three IGnT forms, IGnTA, IGnTB, and IGnTC, and that the IGnTC gene is responsible for the I antigen expression on RBCs. This report describes molecular genetic analysis of a Taiwanese person with the adult i phenotype but without congenital cataracts. STUDY DESIGN AND METHODS: The five exon regions of the IGnT gene of the adult i individual were amplified by polymerase chain reaction (PCR) and cloned, and the sequences were determined. The activity of the IGnT enzyme expressed from the mutant IGnTC gene identified in this i adult was analyzed. RESULTS: The presented adult i individual possesses wild-type IGnTA and IGnTB genes but a mutant IGnTC gene with a 243T>A nucleotide substitution, which predicts an amino acid alteration of Asn81Lys. PCR-restriction fragment length polymorphism analysis has been used to show that this IGnTC*243A allele is uncommon in the general Taiwanese population. The activity of the IGnT enzyme expressed from the mutant IGnTC*243A gene was significantly reduced when compared with that expressed from the wild-type IGnTC gene. CONCLUSION: A novel IGnTC allele with a 243T>A missense mutation was demonstrated in our adult i Taiwanese without congenital cataracts. The molecular basis revealed for this adult i case agrees with the proposed molecular genetic mechanism, accounting for the partial association of the adult i phenotype with congenital cataracts. © 2006 American Association of Blood Banks. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-33750366514&doi=10.1111%2fj.1537-2995.2006.01006.x&partnerID=40&md5=aa3a1adc1f897cced659e14ac27623c3 http://ntur.lib.ntu.edu.tw//handle/246246/163230 |
ISSN: | 00411132 | DOI: | 10.1111/j.1537-2995.2006.01006.x | SDG/關鍵字: | beta 1,6 acetylglucosaminyltransferase; blood group I antigen; n acetylglucosaminyltransferase; unclassified drug; allele; article; congenital cataract; controlled study; enzyme activity; erythrocyte; exon; gene; gene amplification; gene locus; gene sequence; human; ignta gene; igntb gene; igntc gene; missense mutation; molecular cloning; molecular genetics; mutant; phenotype; polymerase chain reaction; protein expression; restriction fragment length polymorphism; Adult; Alleles; Amino Acid Substitution; Asian Continental Ancestry Group; Cataract; Female; Gene Expression; Humans; I Blood-Group System; Isoenzymes; Male; Mutation, Missense; N-Acetylglucosaminyltransferases; Phenotype; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; Taiwan |
顯示於: | 生化科學研究所 |
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