Gene: [04q1/AIH2] amelogenesis imperfecta 2, hypocalcification (autosomal dominant);
|
COM |
[1] Linkage to the long arm of chromosome 4 has been established in three
families with autosomal dominant amelogenesis imperfecta
(Forsman-1994; Karrman-1997).
[2] Candidate genes for autosomal dominant amelogenesis imperfecta include albumin (GEM:04q1/ALB) and ameloblastin (GEM:04q21/AMBN) but the involvement of these genes in the disease has yet to be demonstrated." |
|
HET |
The genetic hetetogeneity in amelogenesis imperfecta was shown with one autosomal locus (GEM:04q1/AIH2) and two X-linked ones (GEM:0Xp22/AMELX; GEM:0Xq2/AIH3)." |
|
REF |
PAT,LOC,LIN "Forsman K &: Hum Mol Genet, 3, 1621-1625, 1994 PAT,LOC,LIN "Karrman C &: Genomics, 39, 164-170, 1997 CLO,LOC "MacDougall M &: Genomics, 41, N1, 115-118, 1997 |
|
KEY |
devd, bone, exce |
|
CLA |
unknown, basic |
|
LOC |
04 q11-13 |
|
MIM |
MIM: 104500 |
