成釉蛋白基因（AMBN）定位于4号染色体q21区域，该区域是常染色体显性遗传性釉质发育不全的关键区域。
Ameloblastin gene (AMBN) maps within the critical region for autosomal dominant amelogenesis imperfecta at chromosome 4q21.
作者信息
MacDougall M, DuPont B R, Simmons D, Reus B, Krebsbach P, Kärrman C, Holmgren G, Leach R J, Forsman K
机构信息
Department of Pediatric Dentistry, University of Texas Health Science Center at San Antonio 78284, USA.
出版信息
Genomics. 1997 Apr 1;41(1):115-8. doi: 10.1006/geno.1997.4643.
Amelogenesis imperfecta (AI) is a broad group of hereditary enamel defects that is characterized by a high degree of clinical diversity. Recently, the local hypoplastic form of autosomal dominant AI (AIH2) has been mapped to human chromosome 4q in a 17.6-cM region. This locus has been further refined to a 4-Mb interval between D4S2421 and Albumin. Recently, a cDNA clone for an enamel matrix protein, ameloblastin (AMBN), has been isolated. In this report, we have isolated a PAC human genomic clone containing the human AMBN gene. The AMBN was mapped by two color fluorescence in situ hybridization using two P1 genomic clones for sequence tagged site (STS) markers, D4S400 and D4S409, which flank the critical AIH2 region. Our results place AMBN at 4q21 between D4S409 (4q13) and D4S400 (4q21). Furthermore, the AMBN PAC genomic clone was shown to contain three STS markers, D4S2604, D4S2670, and D4S2609, which are contained within the critical region defined by six Swedish families with AIH2. AMBN is therefore a strong candidate gene for AIH2.
牙釉质发育不全（AI）是一组广泛的遗传性牙釉质缺陷，其特点是具有高度的临床多样性。最近，常染色体显性AI的局部发育不全型（AIH2）已被定位于人类4号染色体上一个17.6厘摩的区域。该位点已进一步精确定位于D4S2421和白蛋白之间4兆碱基的区间内。最近，已分离出一种牙釉质基质蛋白——成釉蛋白（AMBN）的cDNA克隆。在本报告中，我们分离出了一个包含人类AMBN基因的PAC人类基因组克隆。利用两个用于序列标签位点（STS）标记D4S400和D4S409的P1基因组克隆，通过双色荧光原位杂交对AMBN进行定位，这两个标记位于关键的AIH2区域两侧。我们的结果将AMBN定位于4q21，在D4S409（4q13）和D4S400（4q21）之间。此外，AMBN PAC基因组克隆显示包含三个STS标记D4S2604、D4S2670和D4S2609，这些标记包含在由六个患有AIH2的瑞典家族所定义的关键区域内。因此，AMBN是AIH2的一个强有力的候选基因。
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