Beyond Mendel: An evolving view of human genetic disease transmission

被引：262

作者：

Badano, JL

Katsanis, N

机构：

[1] Johns Hopkins Univ, Inst Med Genet, Baltimore, MD 21287 USA

[2] Wilmer Eye Inst, Baltimore, MD 21287 USA

来源：

NATURE REVIEWS GENETICS | 2002年 / 3卷 / 10期

基金：

美国国家卫生研究院;

关键词：

D O I：

10.1038/nrg910

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Methodological and conceptual advances in human genetics have led to the identification of an impressive number of human disease genes. This wealth of information has also revealed that the traditional distinction between Mendelian and complex disorders might sometimes be blurred. Genetic and mutational data on an increasing number of disorders have illustrated how phenotypic effects can result from the combined action of alleles in many genes. In this review, we discuss how an improved understanding of the genetic basis of multilocus inheritance is catalysing the transition from a segmented view of human genetic disease to a conceptual continuum between Mendelian and complex traits.

引用

收藏

页码：779 / 789

页数：11

相关论文

共 124 条

[11] Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci [J].

Beales, PL ;

Katsanis, N ;

Lewis, RA ;

Ansley, SJ ;

Elcioglu, N ;

Raza, J ;

Woods, MO ;

Green, JS ;

Parfrey, PS ;

Davidson, WS ;

Lupski, JR .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (03) :606-616

[12] Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia [J].

Bejjani, BA ;

Lewis, RA ;

Tomey, KF ;

Anderson, KL ;

Dueker, DK ;

Jabak, M ;

Astle, WF ;

Otterud, B ;

Leppert, M ;

Lupski, JR .

AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (02) :325-333

[13] Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus [J].

Bejjani, BA ;

Stockton, DW ;

Lewis, RA ;

Tomey, KF ;

Dueker, DK ;

Jabak, M ;

Astle, WF ;

Lupski, JR .

HUMAN MOLECULAR GENETICS, 2000, 9 (03) :367-374

[14]

BLAU N, 1993, PTERIDINES, V4, P1

[15] A human model for multigenic inheritance: Phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus [J].

Bolk, S ;

Pelet, A ;

Hofstra, RMW ;

Angrist, M ;

Salomon, R ;

Croaker, D ;

Buys, CHCM ;

Lyonnet, S ;

Chakravarti, A .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2000, 97 (01) :268-273

[16]

BOLK S, 2002, NAT GENET, V31, P89

[17] Fibrinogen Milano XII:: a dysfunctional variant containing 2 amino acid substitutions, Aα R16C and γ G165R [J].

Bolliger-Stucki, B ;

Lord, ST ;

Furlan, M .

BLOOD, 2001, 98 (02) :351-357

[18] NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome [J].

Boute, N ;

Gribouval, O ;

Roselli, S ;

Benessy, F ;

Lee, H ;

Fuchshuber, A ;

Dahan, K ;

Gubler, MC ;

Niaudet, P ;

Antignac, C .

NATURE GENETICS, 2000, 24 (04) :349-354

[19] MC1R genotype modifies risk of melanoma in families segregating CDKN2A mutations [J].

Box, NF ;

Duffy, DL ;

Chen, W ;

Stark, M ;

Martin, NG ;

Sturm, RA ;

Hayward, NK .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) :765-773

[20] Candidate locus for a nuclear modifier gene for maternally inherited deafness [J].

Bykhovskaya, Y ;

Estivill, X ;

Taylor, K ;

Hang, T ;

Hamon, M ;

Casano, RAMS ;

Yang, HY ;

Rotter, JI ;

Shohat, M ;

Fischel-Ghodsian, N .

AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 66 (06) :1905-1910

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