Dia gene models in
lod-score analysis
Marcella Devoto
The Children’s Hospital of Philadelphia, University of Pennsylvania
Human Genetics: Linkage analysis and dia genetics
Short Cour, Peking University
August 10-15, 2015
Definition of dia locus model • For monogenic traits, genetic model is
defined by:
– mode of inheritance (autosomal or X-linked,
dominant or recessive)
足开头的成语接龙
清淡食物– penetrance, or probability of being affected given七下生物
a certain dia locus genotype
– dia allele frequency
Autosomal dominant mode of inheritance • Affected individuals usually are
heterozygous for dia-causing
mutation
• Rare homozygotes can be equally or more verely affected
• Dia affects both genders equally • Recurrence risk for sibs and children is 50%
• May have late ont and/or reduced penetrance
关于诚信的演讲稿600字
• Affected people often able to
reproduce even if dia is fatal
+/- +/+
+/+ or +/-
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+/+ +/+
+/-
+/-
+/-
+/- +/+ or +/-
Autosomal dominant mode of inheritance
五形in lod-score analysis
• Extended pedigrees, where pha can be determined, are often available
• With 100% penetrance, affected and unaffected children of affected individuals are equally informative – Children of unaffected individuals provide no information • With reduced penetrance, information provided by unaffected individuals decreas
– Children of unaffected individuals provide some information • Parents-child trios are not informative; at least one more individual (affected or unaffected) must be available
Informative pedigrees in linkage analysis • Trios (parents and one affected child) contain no linkage information UNLESS there is association between dia and marker allele (and phas are not equally likely)
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