Calculate the LOD-score Z (Logarithm Of Odds) for a genetic distance set to 10 cM (hence a recombination frequency of 0 = = 0,1). Reminder Z(0) = Log10 probability if linkage probability if independant What to conclude from this value of Z? = Log10 L (0<0,5) L (0=0,5)

Human Anatomy & Physiology (11th Edition)
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Author:Elaine N. Marieb, Katja N. Hoehn
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Chapter1: The Human Body: An Orientation
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The Turner Kieser Syndrome (or nail patella syndrome) is a dominant human disease (prevalence
about 1/100.000), which impairs the normal development of, nails and kneecaps (patella). In the
following study the mutant allele for this gene is noted "M" and the wild type allele "m".
On the family tree below black symbols (circles for women and squares for men) indicate people
suffering from KSS and open symbols represent healthy persons. Moreover, all individuals have been
genotyped at the locus controlling blood type ([O] : ii ; [A] : Iª_ ; [B] : /B_ ; [AB] : /A/B)
1
2
Reminder
3
ilB iIB
2
3
O
iIB IB iIB
7
O
ii iIB IB IA ii ii
Z(0) = Log10
6
4
What to conclude from this value of Z ?
5
ilA ilA
ii
8
9
probability if linkage
probability if independant
10
2
ilB
Calculate the LOD-score Z (Logarithm Of Odds) for a genetic distance set to 10 cM (hence a
recombination frequency of 0 = 0,1).
11 12 13
=
ii iIB ii ii ii iIB IB
14 15 16
Log10
L (0<0,5)
L (0=0,5)
Transcribed Image Text:The Turner Kieser Syndrome (or nail patella syndrome) is a dominant human disease (prevalence about 1/100.000), which impairs the normal development of, nails and kneecaps (patella). In the following study the mutant allele for this gene is noted "M" and the wild type allele "m". On the family tree below black symbols (circles for women and squares for men) indicate people suffering from KSS and open symbols represent healthy persons. Moreover, all individuals have been genotyped at the locus controlling blood type ([O] : ii ; [A] : Iª_ ; [B] : /B_ ; [AB] : /A/B) 1 2 Reminder 3 ilB iIB 2 3 O iIB IB iIB 7 O ii iIB IB IA ii ii Z(0) = Log10 6 4 What to conclude from this value of Z ? 5 ilA ilA ii 8 9 probability if linkage probability if independant 10 2 ilB Calculate the LOD-score Z (Logarithm Of Odds) for a genetic distance set to 10 cM (hence a recombination frequency of 0 = 0,1). 11 12 13 = ii iIB ii ii ii iIB IB 14 15 16 Log10 L (0<0,5) L (0=0,5)
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