Linkage mapping of the gene for type III collagen (COL3A1) to human chromosome 2q using a VNTR polymorphism.
Linkage mapping of the gene for type III collagen (COL3A1) to human chromosome 2q using a VNTR polymorphism.
复制标题
使用 VNTR 多态性对 III 型胶原 (COL3A1) 基因与人类染色体 2q 进行连锁作图。
DOI：
10.1006/geno.1994.1164
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发表时间：
1994
期刊：
影响因子：
4.4
通讯作者：
Summar,ML
中科院分区：
文献类型：
--
作者：
Tiller,GE;Polumbo,PA;Summar,ML
III型胶原α1（III）链的基因COL3A1先前已通过原位杂交定位到人类染色体2q24.3-q31上。脉冲场凝胶电泳物理图谱显示COL3A1位于COL5A2的35kb范围内。我们利用内含子25内的五核苷酸重复多态性在COL3A1位点对CEPH家族进行了基因分型。我们证明了与18个匿名标记以及磷酸氨甲酰合成酶（CPSI）基因的显著联系，我们之前已将其定位到该区域。COL3A1和COL5A2 （θ = 0时Z= 9.93）和D2S24 （θ = 0时Z= 10.55）之间未见重组。基因座顺序为(D2S32-D2S138-D2S148)-(D2S24-COL5A2-COL3A1)-(D2S118-D2S161)，下一个最有可能的顺序的概率为1:2300。这些关系与COL3A1到2q远端部分的物理映射一致，并通过多点分析将其置于CPSI近端。这些连锁关系将有助于进一步研究IV型ehers - danlos综合征和氨甲酰磷酸合成酶I缺乏症，并为该区域其他基因的定位提供额外的框架。
The gene for the α1(III) chain of type III collagen, COL3A1, has been previously mapped to human chromosome 2q24.3-q31 byin situhybridization. Physical mapping by pulsed-field gel electrophoresis has demonstrated that COL3A1 lies within 35 kb of COL5A2. We genotyped the CEPH families at the COL3A1 locus using a pentanucleotide repeat polymorphism within intron 25. We demonstrated significant linkage to 18 anonymous markers as well as the gene for carbamyl phosphate synthetase (CPSI), which we had previously mapped to this region. No recombination was seen between COL3A1 and COL5A2 (Z= 9.93 at θ = 0) or D2S24 (Z= 10.55 at θ = 0). The locus order is (D2S32-D2S138-D2S148)-(D2S24-COL5A2-COL3A1)-(D2S118-D2S161), with odds of 1:2300 for the next most likely order. These relationships are consistent with the physical mapping of COL3A1 to the distal portion of 2q and place it proximal to CPSI by means of multipoint analysis. These linkage relationships should prove useful in further studies of Ehlers-Danlos syndrome type IV and carbamyl phosphate synthetase I deficiency and provide an additional framework for localizing other genes in this region.