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. 1995;19(3):190–195.

Table 1.

Disease Genes Identifed Using Positional Cloning

Year Disease
1986 Chronic Granulomatous Disease
Duchenne’s Muscular Dystrophy
Retinoblastoma
1989 Cystic Fibrosis
1990 Wilms’ Tumor
Neurofibromatosis Type 1
Testis Determining Factor
Choroideremia
1991 Fragile X Syndrome
Familial Polyposis Coli
Kallmann’s Syndrome
Aniridia
1992 Myotonic Dystrophy
Lowe’s Syndrome
Norris’s Syndrome
1993 Menkes’ Disease
X-Linked A gammaglobulinemia
Glycerol Kinase Deficiency
Adrenoleukodystrophy
Neurofibromatosis Type 2
Huntington’s Disease
von Hippel-Lindau Disease
Spinocerebellar Ataxia I
Lissencephaly
Wilson’s Disease
Tuberous Sclerosis
1994 MacLeod’s Syndrome
Polycystic Kidney Disease
Dentatorubral Pallidoluysian Atrophy
Fragile X “E”
Achondroplasia
Wiskott Aldrich Syndrome
Early Onset Breast/Ovarian Cancer (BRCA 1)
Diastrophic Dysplasia
Aarskog-Scott Syndrome
Congenital Adrenal Hypoplasia
Emery-Dreifuss Muscular Dystrophy
Machado-Joseph Disease
1995 Spinal Muscular Atrophy
Chondrodysplasia Punctate
Limb-Girdle Muscular Dystrophy
Ocular Albinism
Ataxia Telangiectasia
Alzheimer’s Disease
Hypophosphatemic Rickets
Hereditary Multiple Exostoses
Bloom Syndrome
Early Onset Breast Cancer (BRCA 2)