دورية أكاديمية
[Serological and genetic study of a pedigree featuring a rare p phenotype].
| العنوان: | [Serological and genetic study of a pedigree featuring a rare p phenotype]. |
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| المؤلفون: | Wei L; Institute of Blood Transfusion, Guangzhou Blood Center, Guangzhou, Guangdong 510095, P R China., Ji YL, Luo H, Mo CY, Zhang RQ, Zhao Y, Wang Z, Luo GP |
| المصدر: | Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2012 Dec; Vol. 29 (6), pp. 701-4. |
| نوع المنشور: | Case Reports; English Abstract; Journal Article; Research Support, Non-U.S. Gov't |
| اللغة: | Chinese |
| بيانات الدورية: | Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print) Linking ISSN: 10039406 NLM ISO Abbreviation: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: <2004->: Chengdu, Sichuan, P.R. China : Sichuan University Original Publication: Chengdu : Hua xi yi ke da xue, |
| مواضيع طبية MeSH: | Blood Grouping and Crossmatching* , Genotype* , Phenotype*, P Blood-Group System/*genetics , P Blood-Group System/*immunology, Adult ; Base Sequence ; Exons ; Female ; Galactosyltransferases/genetics ; Humans ; Mutation ; Pedigree |
| مستخلص: | Objective: To explore genetic background of a pedigree with a rare p phenotype from Guangdong province. Methods: The rare p phenotype was identified by a conventional serologic method. With genomic DNA of proband and family members extracted, exon 3 of alpha-(1,4)galactosyltransferase (A4GALT) gene was amplified with PCR and analyzed by direct sequencing. The mutation found in the pedigree was screened in a normal population using direct sequencing. Results: The proband and 4 family members with the rare p phenotype have all carried a point mutation c.100G>A (p.Val34Ile) in combination with a deletion-insertional mutation c.418_428del11ins34(p.Gln139Trpfs*72), which renders a compound mutation of A4GALT gene. One family member with P2 phenotype has carried a same heterozygous mutation. Of the 100 healthy donors, 5 have carried a heterozygous point mutation c.100G>A, and none carried the deletion-insertional mutation c.418_428del11ins34. Conclusion: The rare p phenotype of the pedigree has resulted from a compound mutation of the A4GALT gene, which is in keeping with a recessive inheritance pattern of the p phenotype. |
| المشرفين على المادة: | 0 (P Blood-Group System) EC 2.4.1.- (Galactosyltransferases) |
| تواريخ الأحداث: | Date Created: 20121211 Date Completed: 20130403 Latest Revision: 20121211 |
| رمز التحديث: | 20240513 |
| DOI: | 10.3760/cma.j.issn.1003-9406.2012.06.017 |
| PMID: | 23225054 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1003-9406 |
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| DOI: | 10.3760/cma.j.issn.1003-9406.2012.06.017 |