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Table 4 Summary of disease frequencies in total population

From: Analyzing the most frequent disease loci in targeted patient categories optimizes disease gene identification and test accuracy worldwide

Disease category

Caucasian

Worldwide(f)

 

(a)Affected

(b) Heterozygote

(a’) Affected

(b’) Heterozygote

A1. Autosomal

~1/668(a)

~2/5

~1/967

~1/3

Recessive

~ (0.15%)

(~40%)

(0.10%)

(~34%)

A2. Couples

 

~ 1/174

 

~ 1/255

  

(~0.58%)

 

(~0.39%)

A3. Late Onset

    

Parkinson (ww)

~1/120

~1/3.9*

~1/200

~1/7

Hemochromatosis (cau) ~ (0.83%)

(~26%)

(0.5%)

(~14%)

 

B1. X-Linked

~1/1065

~1/546

~1/1065

~1/546

 

~ (0.094%)

(~.18%)

~ (0.094%)

(~.18%)

B2 . Couples

 

~1/546

 

~1/546

(Recessive)

  

(~.18%)

(~.18%)

C. Autosomal

~1/123

~1/123

~1/123

~1/123

Dominant

~(0.81%)

(~.81%)

~(0.81%)

(~.81%)

D1. Abn POC

~ 1/2

~1/2

~1/2

~1/2

Karyotype

~ (50%)

~ (50%)

~ (50%)

~ (50%)

Quantification (54)

~ (47.7%)

~ (47.7%)

~ (47.7%)

~ (47.7%)

D2. Current Abn Amnio

~ 1/13.8

~1/13.8

~1/13.8

~1/13.8

Karyotype

~ (7.2%)

~ (7.2%)

~ (7.2%)

~ (7.2%)

Quantification (54)

~ (6.1%)

~ (6.1%)

~ (6.1%)

~ (6.1%)

D3. Abnormal Newborn

~1/156

~1/156

~1/156

~1/156

Karyotype

~(0.64%)

~(0.64%)

~(0.64%)

~(0.64%)

Quantification (54)

~(0.59%)

~(0.59%)

~(0.59%)

~(0.59%)

E. Common

~ 1/1097X 2(e)

~ 1/1097X 2(e)

~ 1/1097X 2(e)

~ 1/1097X 2(e)

Deletions

~(0.18%)

(~.18%)

~(0.18%)

(~.18%)

F. Y-linked

~1/12,500

 

~1/12,500

 

Hemizygote

~(0.008%)

 

~(0.008%)

 
  1. (a) Without late onset hemochromatosis and Parkinson, with cystic fibrosis and α-1-antitrypsin in Caucasians.
  2. (b) E1. First 5 abnormal karyotypes listed in Additional file 1: Table S1E detect 1/329 of 1/184 [.31% of .54%]. Other abnormalities may not be detected with targeted platform.
  3. (c) E2. Other karyotypic abnormalities that may not be identified by a targeted platform. Lebo et al., 2002, lists additional 30 chromosome regions that would identify ~97% of all abnormalities if tested for copy number. Platforms with SNPs will identify copy number changes in any region in which these are found.
  4. (d) Adult estimate excludes trisomy 13 and trisomy 18 from category (b) above.
  5. WW = worldwide; Cau = Caucasian.
  6. *Compare to Cystic fibrosis: [1/29]2 X [1/4] =1/3300]. Includes hemochromatosis.
  7. (e) The frequency of the common deletions listed at the top of Additional file 1: Table S1E comprised 5% of the abnormalities identified by microarrays while the remaining 35 loci at the bottom comprised the other 5%. Thus the first population frequency was multipled by 2 to estimate the total frequency.
  8. (f) Without common regional diseases.
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Journal of Translational Medicine

ISSN: 1479-5876

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