Rare Disease Genes—Lessons and Challenges

Table 1.

Interval Showing the Linkage Disequilibrium in the Disease Alleles of Finnish Disease Heritage

Disease Gene location Interval (cM)
Autoimmune polyendocrinopathy–candidiasis–  ectodermal dystrophy (APECED) 21q22.3 3
Cartilage-hair hypoplasia (CHH) 9p21–p13 3
Choroideremia Xq21 9
Congenital chloride diarrhoea (CCD) 7q31 13
Congenital nephrosis (CNF) 19q12–q13.1 3
Cornea plana congenita 12q21 2.5
Diastrophic dysplasia (DTD) 5q31–q34 2
Familial amyloidosis, Finnish type (FAF) 9q33 3.5
Infantile neuronal ceroid-lipofuscinosis (INCL) 1p32 2.5
Infantile onset spinocerebellar ataxia (IOSCA) 10q23.3–q24.1 5
Northern epilepsy (Kainuu epilepsy) 8ptel. 10
Progressive myoclonus epilepsy (PME) 21q22 5
Retinoschisis Xp22.2–p22.1 10
Salladisease 6q14–q15 10
Usher syndrome, type III (USH3) 3q21–q25 7.5
Variant form of late infantile NCL (vLINCL) 13q21.1–q32 11
  • For original references, see Peltonen et al. (1995).

This Article

  1. Genome Res. 7: 765-767

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