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Table 2 Genotyping of quadruplets and father with respect to mutations and 13q markers.

From: Constitutive RB1 mutation in a child conceived by in vitrofertilization: implications for genetic counseling

Mutation/marker

Alleles

 

Father

A (proband)

B

C

D

g.2056C>G (in – 4 position in 5'UTR)

C/C

G/C

C/C

C/C

C/C

g.39606C>T (in intron 3)

C/C

T/C

C/C

T/C

T/C

g.174351T>A (in intron 25)

T/T

A/T

T/T

A/T

A/T

D13S284

213/215

213/213

205/215

213/215

213/215

D13S317

11/12

9/11

9/12

9/12

9/12

  1. D13S284 showed two paternal alleles (213 pb and 215 pb) and two maternal alleles (205 pb and 213 pb). The maternal allele 213 pb is present with g.2056G in the proband (A), with g.39606T and with g.174351A in quadruplets A, C and D. Paternal alleles in the quadruplets are indicated in bold characters.
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BMC Medical Genetics

ISSN: 1471-2350

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