Haplotype and mutation analysis in Greek patients with Wilson disease

被引：42
作者：
Loudianos, G
Dessì, V
Lovicu, M
Angius, A
Kanavakis, E
Tzetis, M
Kattamis, C
Manolaki, N
Vassiliki, G
Karpathios, T
Cao, A
Pirastu, M
机构：
[1] Osped Reg Microcitemie, I-09121 Cagliari, Italy
[2] Univ Cagliari, Ist Clin & Biol Eta Evolut, I-09124 Cagliari, Italy
[3] CNR, Ist Ric Talassemie & Anemie Mediterranee, Cagliari, Italy
[4] CNS, Ist Genet Mol, Alghero, Italy
[5] Univ Athens, Aghia Sophia Childrens Hosp, Dept Pediat 1, GR-10679 Athens, Greece
[6] Univ Athens, Aglaia Kyriakou Childrens Hosp, Dept Pediat 2, GR-10679 Athens, Greece
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 1998年 / 6卷 / 05期
关键词：
Wilson disease; haplotype analysis; ATP7B mutations; compound heterozygote; Greek populations;
D O I：
10.1038/sj.ejhg.5200219
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
In this study, we report the results of haplotype and mutation analysis of the ATP7B gene in Wilson disease (WD) patients of Greek origin. We have analysed 25 WD families and two single patients and characterised 94% of the WD chromosomes investigated. We have found 12 different molecular defects (three frameshifts, two splice site, two nonsense, five missense mutations), four of which are novel. Five of the mutations are widely prevalent accounting for 74% of the WD chromosomes analysed. These results may enable preclinical diagnosis in the large majority of WD patients: of Greek descent, thereby improving genetic counselling and disease management.
引用
收藏
页码：487 / 491
页数：5
相关论文
共 18 条
[1]   THE WILSON DISEASE GENE IS A PUTATIVE COPPER TRANSPORTING P-TYPE ATPASE SIMILAR TO THE MENKES GENE [J].
BULL, PC ;
THOMAS, GR ;
ROMMENS, JM ;
FORBES, JR ;
COX, DW .
NATURE GENETICS, 1993, 5 (04) :327-337
[2]   ISOLATION OF A CANDIDATE GENE FOR MENKES DISEASE THAT ENCODES A POTENTIAL HEAVY-METAL BINDING-PROTEIN [J].
CHELLY, J ;
TUMER, Z ;
TONNESEN, T ;
PETTERSON, A ;
ISHIKAWABRUSH, Y ;
TOMMERUP, N ;
HORN, N ;
MONACO, AP .
NATURE GENETICS, 1993, 3 (01) :14-19
[3]   High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease [J].
Chuang, LM ;
Wu, HP ;
Jang, MH ;
Wang, TR ;
Sue, WC ;
Lin, BJ ;
Cox, DW ;
Tai, TY .
JOURNAL OF MEDICAL GENETICS, 1996, 33 (06) :521-523
[4]  
Danks DM, 1989, METABOLIC BASIS INHE, V1, P1416
[5]  
FIGUS A, 1995, AM J HUM GENET, V57, P1318
[6]   Wilson disease mutations associated with uncommon haplotypes in Mediterranean patients [J].
Loudianos, G ;
Dessi, V ;
Angius, A ;
Lovicu, M ;
Loi, A ;
Deiana, M ;
Akar, N ;
Vajro, P ;
Figus, A ;
Cao, A ;
Pirastu, M .
HUMAN GENETICS, 1996, 98 (06) :640-642
[7]   Detection of the His1069Gln mutation in Wilson disease by rapid polymerase chain reaction [J].
MaierDobersberger, T ;
Ferenci, P ;
Polli, C ;
Balac, P ;
Dienes, HP ;
Kaserer, K ;
Datz, C ;
Vogel, W ;
Gangl, A .
ANNALS OF INTERNAL MEDICINE, 1997, 127 (01) :21-+
[8]   ISOLATION OF A PARTIAL CANDIDATE GENE FOR MENKES DISEASE BY POSITIONAL CLONING [J].
MERCER, JFB ;
LIVINGSTON, J ;
HALL, B ;
PAYNTER, JA ;
BEGY, C ;
CHANDRASEKHARAPPA, S ;
LOCKHART, P ;
GRIMES, A ;
BHAVE, M ;
SIEMIENIAK, D ;
GLOVER, TW .
NATURE GENETICS, 1993, 3 (01) :20-25
[9]   Haplotype and mutation analysis in Japanese patients with Wilson disease [J].
Nanji, MS ;
Nguyen, VTT ;
Kawasoe, JH ;
Inui, K ;
Endo, F ;
Nakajima, T ;
Anezaki, T ;
Cox, DW .
AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 60 (06) :1423-1429
[10]   CHARACTERIZATION OF THE WILSON-DISEASE GENE ENCODING A P-TYPE COPPER TRANSPORTING ATPASE - GENOMIC ORGANIZATION, ALTERNATIVE SPLICING, AND STRUCTURE/FUNCTION PREDICTIONS [J].
PETRUKHIN, K ;
LUTSENKO, S ;
CHERNOV, I ;
ROSS, BM ;
KAPLAN, JH ;
GILLIAM, TC .
HUMAN MOLECULAR GENETICS, 1994, 3 (09) :1647-1656
12