COL6A1和COL6A2基因作为一个基因簇存在，并在人类21号染色体q端粒区域检测到高信息量的DNA多态性。
The COL6A1 and COL6A2 genes exist as a gene cluster and detect highly informative DNA polymorphisms in the telomeric region of human chromosome 21q.
作者信息
Francomano C A, Cutting G R, McCormick M K, Chu M L, Timpl R, Hong H K, Antonarakis S E
机构信息
Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205.
出版信息
Hum Genet. 1991 Jun;87(2):162-6. doi: 10.1007/BF00204174.
The genes that encode the alpha 1 (VI) and alpha 2 (VI) collagen chains, designated COL6A1 and COL6A2, map to human chromosomal band 21q22.3. Using pulsed-field gel electrophoresis and somatic cell hybrids, we found that COL6A1 and COL6A2 form a gene cluster on the most distal part of chromosome 21. Furthermore, we detected several DNA polymorphisms (both restriction site and VNTRs) associated with these loci. These polymorphisms make the COL6A1 and COL6A2 genes among the most informative markers on human chromosome 21.
编码α1（VI）和α2（VI）胶原链的基因，分别命名为COL6A1和COL6A2，定位于人类染色体21q22.3带。利用脉冲场凝胶电泳和体细胞杂种，我们发现COL6A1和COL6A2在染色体21的最远端形成一个基因簇。此外，我们检测到了与这些基因座相关的几种DNA多态性（包括限制性酶切位点和可变数目串联重复序列）。这些多态性使得COL6A1和COL6A2基因成为人类染色体21上信息最为丰富的标记之一。
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