Dia gene models in
lod-score analysis
redemptionMarcella Devoto
The Children’s Hospital of Philadelphia, University of Pennsylvania
Human Genetics: Linkage analysis and dia genetics
Short Cour, Peking Universityquestion2answer
August 10-15, 2015英语幽默小短文
Definition of dia locus model • For monogenic traits, genetic model is
defined by:
– mode of inheritance (autosomal or X-linked,
dominant or recessive)
外媒看中国
– penetrance, or probability of being affected given
sincerea 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%
有道网页翻译• May have late ont and/or reduced penetrance
• Affected people often able to
reproduce even if dia is fatal
+/- +/+
+/+ or +/-
+/+
+/+ +/+
+/-
+/-
+/-
+/- +/+ or +/-
尚德实验学校
Autosomal dominant mode of inheritance
in lod-score analysis
• Extended pedigrees, where pha can be determined, are often available记忆能力
• 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)
2 2 1 2
straightedge1 2
>issue是什么意思
