Risk calculation in autosomal recessive inheritance

被引：0
|
作者：
Grimm, T. [1 ]
Fischer, C. [2 ]
机构：
[1] Univ Wurzburg, Abt Med Genet, Inst Humangenet, Biozentrum, D-97074 Wurzburg, Germany
[2] Univ Heidelberg, Inst Humangenet, D-6900 Heidelberg, Germany
来源：
MEDIZINISCHE GENETIK | 2011年 / 23卷 / 03期
关键词：
X-linked inheritance; Bayes theorem; Mutation; Mosaicism; Muscular dystrophy; Duchenne/Becker; DUCHENNE MUSCULAR-DYSTROPHY; GERMLINE MOSAICISM; DMD GENE; DELETIONS; DUPLICATIONS; FAMILIES; MUTATION; ORIGIN;
D O I：
10.1007/s11825-011-0294-8
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Using the example of Duchenne muscular dystrophy, risk calculations for X-linked recessive traits are performed using the Bayesian computation tableaus, demonstrating how to take even complex genetic models and their impact on the calculated risk into consideration.
引用
收藏
页码：373 / 376
页数：4
相关论文
共 50 条
  • [21] AUTOSOMAL RECESSIVE INHERITANCE OF NAGER ACROFACIAL DYSOSTOSIS
    CHEMKE, J
    MOGILNER, BM
    BENITZHAK, I
    ZURKOWSKI, L
    OPHIR, D
    JOURNAL OF MEDICAL GENETICS, 1988, 25 (04) : 230 - 232
  • [22] FRONTOFACIONASAL DYSPLASIA - EVIDENCE FOR AUTOSOMAL RECESSIVE INHERITANCE
    GOLLOP, TR
    KIOTA, MM
    MARTINS, RMM
    LUCCHESI, EA
    ALVARENGA, E
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1984, 19 (02): : 301 - 305
  • [23] The Autosomal Recessive Inheritance of Hereditary Gingival Fibromatosis
    Majumder, Poulami
    Nair, Vineet
    Mukherjee, Malancha
    Ghosh, Sujoy
    Dey, Subrata Kumar
    CASE REPORTS IN DENTISTRY, 2013, 2013
  • [24] AMYOPLASIA - AUTOSOMAL RECESSIVE INHERITANCE IN 2 FAMILIES
    POLK, DH
    CLARK, RD
    ETESON, D
    PEDIATRIC RESEARCH, 1987, 21 (04) : A229 - A229
  • [25] AUTOSOMAL RECESSIVE INHERITANCE OF HYPOHIDROTIC ECTODERMAL DYSPLASIA
    KISS, P
    TOROK, E
    PEDIATRIC DERMATOLOGY, 1990, 7 (03) : 242 - 242
  • [26] Autosomal recessive inheritance of classic Bethlem myopathy
    Foley, A. Reghan
    Hu, Ying
    Zou, Yaqun
    Columbus, Alexandra
    Shoffner, John
    Dunn, Diane M.
    Weiss, Robert B.
    Boennemann, Carsten G.
    NEUROMUSCULAR DISORDERS, 2009, 19 (12) : 813 - 817
  • [27] CONGENITAL HYPERINSULINISM - EVIDENCE OF AUTOSOMAL RECESSIVE INHERITANCE
    THORNTON, PS
    SUMNER, A
    RUCHELLI, E
    SPIELMAN, RS
    BAKER, L
    STANLEY, CA
    PEDIATRIC RESEARCH, 1991, 29 (04) : A199 - A199
  • [28] EVIDENCE FOR AUTOSOMAL RECESSIVE INHERITANCE IN CEREBRAL GIGANTISM
    NEVO, S
    ZELTZER, M
    BENDERLY, A
    LEVY, J
    JOURNAL OF MEDICAL GENETICS, 1974, 11 (02) : 158 - 165
  • [29] CHOANAL ATRESIA - EVIDENCE FOR AUTOSOMAL RECESSIVE INHERITANCE
    GERSHONIBARUCH, R
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1992, 44 (06): : 754 - 756
  • [30] FAMILIAL UNRESPONSIVENESS TO THYROTROPIN BY AUTOSOMAL RECESSIVE INHERITANCE
    TAKAMATSU, J
    NISHIKAWA, M
    HORIMOTO, M
    OHSAWA, N
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1993, 77 (06): : 1569 - 1573
12345