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Table 1 RPA ratios for ATP7A probes in 20 patient DNA samples (P1-P20)

From: Exon duplications in the ATP7A gene: Frequency and Transcriptional Behaviour

Exon/Patient

C

P1

P2

P3

P4

P5

P6

P7

P8

P9

P10

P11

P12

P13

P14

P15*

P16

P17

P18

P19

P20

Ex 1a

0.936

0.974

0.920

0.922

1.034

0.921

0.904

1.020

0.922

0.956

0.796

0.969

1.016

0.959

0.982

0.957

1.032

0.804

0.884

0.837

0.994

Ex 1b

0.934

0.970

0.903

0.945

0.938

0.953

1.010

1.061

0.903

0.991

0.856

1.030

1.015

0.943

0.998

0.943

0.904

1.032

0.851

0.960

0.959

Ex 2

1.005

0.992

1.014

1.071

1.014

1.045

0.971

1.006

0.968

0.991

0.859

1.001

1.012

1.002

1.030

0.908

0.974

0.885

0.983

1.000

0.963

Ex 3

0.954

1.905

0.975

1.042

1.021

1.006

1.012

1.765

0.861

1.752

1.717

0.973

1.021

0.946

1.017

0.985

0.999

0.969

0.924

0.979

0.954

Ex 4

1.028

2.009

1.024

1.155

1.052

1.009

1.076

1.910

1.088

1.878

1.903

0.848

1.033

0.956

0.997

0.956

0.995

1.125

1.024

0.979

1.002

Ex 5

0.990

0.944

1.841

1.011

0.971

1.014

1.082

1.889

1.686

1.880

1.662

0.915

0.932

0.952

1.170

0.946

0.904

1.030

0.948

0.987

0.948

Ex 6

0.953

0.964

1.914

2.096

0.934

0.939

1.884

1.000

1.813

1.850

1.723

1.725

0.983

0.949

1.030

0.961

1.012

0.941

0.882

1.009

0.933

Ex 7

1.017

0.931

0.988

1.960

0.943

1.011

1.925

0.981

1.688

1.860

1.629

1.827

2.339

1.874

1.879

1.305

1.011

0.946

0.912

0.971

0.935

Ex 8

0.950

1.050

1.000

0.748

1.014

1.015

1.034

0.990

1.010

1.854

1.980

1.723

2.908

1.943

1.845

1.343

1.943

2.346

1.786

1.845

1.884

Ex 9

0.990

1.049

1.035

1.057

1.021

1.026

1.032

0.970

1.062

1.937

1.884

1.762

2.904

2.055

2.010

1.330

1.994

1.985

1.769

1.873

1.789

Ex 10

0.903

1.020

1.031

0.872

1.003

0.968

0.993

1.023

0.977

1.816

1.834

1.742

2.845

1.917

1.772

1.536

1.875

1.989

1.860

1.883

1.633

Ex 11

1.031

0.979

1.024

1.000

1.004

0.970

1.094

1.024

1.058

1.800

1.847

1.842

0.990

1.855

1.911

1.455

1.842

2.119

1.636

1.930

1.936

Ex 12

1.060

1.032

1.032

1.069

1.070

1.013

1.037

1.000

1.014

1.870

1.564

1.962

1.032

1.644

2.234

1.211

1.762

1.703

2.118

1.858

1.761

Ex 13

1.058

1.068

1.041

1.148

1.907

0.855

1.104

1.095

0.988

1.635

1.756

2.901

1.025

1.014

1.199

1.290

1.034

0.909

1.995

1.846

1.838

Ex 14

1.000

0.989

1.010

0.978

1.649

1.034

1.184

1.005

0.979

0.907

1.853

2.569

0.949

0.973

1.196

1.345

0.942

1.203

1.969

1.886

1.910

Ex 15

1.040

1.026

0.988

0.806

1.024

0.938

1.031

0.972

1.008

0.950

1.717

1.996

1.022

0.981

1.042

0.995

1.088

0.940

1.053

1.907

1.855

Ex 16

0.998

1.095

1.043

1.031

1.050

1.946

1.066

0.967

0.980

0.990

1.687

0.943

1.054

1.075

0.995

1.075

1.102

0.905

0.862

1.029

1.721

Ex 17

0.997

0.990

0.965

0.963

1.003

1.786

1.007

0.993

0.958

0.975

1.686

0.834

0.964

0.960

1.042

0.920

1.012

0.926

0.930

0.990

1.861

Ex 18

0.994

1.017

0.972

1.019

0.978

0.964

1.160

0.984

0.991

0.936

0.949

0.874

1.002

1.009

0.922

1.009

0.984

1.120

0.915

0.999

0.942

Ex 19

0.964

1.035

1.030

1.128

1.036

0.983

0.061

1.003

1.041

1.006

0.934

0.904

1.045

1.008

1.088

1.008

1.073

0.946

0.962

0.990

0.904

Ex 20

0.976

0.957

0.991

0.825

0.981

0.986

0.912

0.990

0.979

0.917

0.921

0.918

1.008

1.018

1.057

0.925

0.993

0.980

0.729

0.993

0.924

Ex 21

0.977

1.054

1.035

0.866

1.066

1.011

1.001

0.959

0.961

0.950

0.905

0.910

1.044

1.064

1.120

1.064

1.003

0.928

0.775

0.995

0.957

Ex 22

0.968

0.963

0.927

1.059

0.985

0.930

1.154

0.994

0.974

1.002

0.907

0.952

0.970

0.949

1.164

0.904

0.959

1.072

1.152

0.956

0.945

  1. RPA ratios for the ATP7A located MLPA probes in a control (C) and the 20 patient DNA samples (P1-P20). The MLPA kit include in addition 11 control probes (not shown in the figure) located at other positions of the X-chromosome.
  2. *The mother of the index patient is tested.