Fine-resolution mapping by haplotype evaluation:: the examples of PFIC1 and BRIC

被引：29

作者：

Bull, LN

Juijn, JA

Liao, M

van Eijk, MJT

Sinke, RJ

Stricker, NL

DeYoung, JA

Carlton, VEH

Baharloo, S

Klomp, LWJ

Abukawa, D

Barton, DE

Bass, NM

Bourke, B

Drumm, B

Jankowska, I

Lovisetto, P

McQuaid, S

Pawlowska, J

Tazawa, Y

Villa, E

Tygstrup, N

Berger, R

Knisely, AS

Houwen, RHJ

Freimer, NB ^{[1
]}

机构：

[1] Univ Calif San Francisco, Dept Psychiat, Neurogenet Lab, San Francisco, CA 94143 USA

[2] Univ Calif San Francisco, Ctr Liver, San Francisco, CA 94143 USA

[3] Wilhelmina Childrens Hosp, Lab Metab Dis, Utrecht, Netherlands

[4] Wilhelmina Childrens Hosp, Dept Pediat Gastroenterol, Utrecht, Netherlands

[5] Tohoku Univ, Sch Med, Dept Pediat, Sendai, Miyagi 980, Japan

[6] Our Ladys Hosp Sick Children, Natl Ctr Med Genet, Dublin 12, Ireland

[7] Univ Calif San Francisco, Sch Med, Dept Med, Div Gastroenterol, San Francisco, CA 94143 USA

[8] Univ Coll Dublin, Childrens Res Ctr, Dept Pediat, Dublin 2, Ireland

[9] Childrens Mem Hlth Inst, Warsaw, Poland

[10] Univ Turin, Ist Med Interna, Turin, Italy

[11] Tottori Univ, Fac Med, Dept Pediat, Yonago, Tottori 683, Japan

[12] Univ Modena, Div Gastroenterol, I-41100 Modena, Italy

[13] Rigshosp, Dept Hepatol, DK-2100 Copenhagen, Denmark

[14] Univ Texas, Med Branch, Dept Pathol, Galveston, TX 77550 USA

来源：

HUMAN GENETICS | 1999年 / 104卷 / 03期

关键词：

D O I：

10.1007/PL00008714

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Loci for two inherited liver diseases, benign recurrent intrahepatic cholestasis (BRIC) and progressive familial intrahepatic cholestasis type 1 (PFIC1), have previously been mapped to 18q21 by a search for shared haplotypes in patients in two isolated populations. This paper describes the use of further haplotype evaluation with a larger sample of patients for both disorders, drawn from several different populations. Our assessment places both loci in the same interval of less than 1 cM and has led to the discovery of the PFIC1/BRIC gene, FIC1; this discovery permits retrospective examination of the general utility of haplotype evaluation and highlights possible caveats regarding this method of genetic mapping.

引用

页码：241 / 248

页数：8

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