The tetranucleotide repeat polymorphism D21S1245 demonstrates hypermutability in germline and somatic cells.
The tetranucleotide repeat polymorphism D21S1245 demonstrates hypermutability in germline and somatic cells.
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四核苷酸重复多态性 D21S1245 表明生殖细胞和体细胞具有超突变性。
DOI：
10.1093/hmg/4.7.1193
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发表时间：
1995
影响因子：
3.5
通讯作者：
Antonarakis,SE
中科院分区：
文献类型：
--
作者：
TalbotJr,CC;Avramopoulos,D;Gerken,S;Chakravarti,A;Armour,JA;Matsunami,N;White,R;Antonarakis,SE
通过对 CEPH 参考谱系进行基因分型，在人类 21 号染色体连锁图上鉴定并定位了 6 个新的多态性短序列重复。这些标记之一，四聚体 (AAAG)n 重复 D21S1245，被发现是高度可变的。在 40 个 CEPH 家族成员的淋巴母细胞系 DNA 中，总共检测到 18 个新等位基因。这些新的等位基因有时以镶嵌形式出现，在父本和母本 DNA 中同样出现，并且可能比它们所衍生的等位基因同样大或小。 D21S1245 较大的等位基因更容易转化为新的等位基因。相应的基因组血液 DNA 中不存在具有嵌合现象的新等位基因，因此起源于类淋巴母细胞系建立期间或之后；在相应 CEPH 个体的基因组血液 DNA 中也发现了一半没有嵌合现象的新等位基因。在检查的 716 个减数分裂中观察到的种系突变率范围为 0.56–1.4×10−2 在检查的 405 个细胞系中观察到的体细胞突变范围为 1.96–3.46×10−2 这是迄今为止检测到的人类基因组中最易变异的微卫星重复多态性之一。 D21S1245 具有高度多态性（杂合度为 0.96），映射在 D21S231 和 D21S198 之间。
Six novel polymorphic short sequence repeats were identified and localized on the linkage map of human chromosome 21 by genotyping the CEPH reference pedigrees. One of these markers, the tetrameric (AAAG)nrepeat D21S1245, was found to be hypermutable. In the DNAs from lymphoblastoid cell lines of members of the 40 CEPH families a total of 18 new alleles were detected. These new alleles, sometimes appearing in mosaic forms, arose equally in paternal and maternal DNAs, and could be equally larger or smaller than the alleles from which they were derived. The larger alleles of D21S1245 are more prone to be converted to new alleles. None of the new alleles with mosaicism were present in the corresponding genomic blood DNA, and therefore originated during or after the establishment of the lymphoblastoid cell lines; half of the new alleles without mosaicism were also found in genomic blood DNA of the appropriate CEPH individuals. The range of germline mutation rate observed In the 716 meioses examined was 0.56–1.4×10−2the range of somatic mutations observed in the 405 cell lines examined was 1.96–3.46×10−2This is one of the most hypermutabie microsatellite repeat polymorphism in the human genome detected to date. D21S1245, is highly polymorphic (heterozygosity of 0.96) and maps between D21S231 and D21S198.
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影响因子：
3.5
作者：
WEBER, JL;WONG, C
通讯作者：
WONG, C
影响因子：
64.8
作者：
SMITH, LM;SANDERS, JZ;HOOD, LE
通讯作者：
HOOD, LE
应用自动 DNA 大小测定技术对微卫星位点进行基因分型。
影响因子：
4.4
作者：
Ziegle,JS;Su,Y;Corcoran,KP;Nie,L;Mayrand,PE;Hoff,LB;McBride,LJ;Kronick,MN;Diehl,SR
通讯作者：
Diehl,SR
位于脆弱 X 基因内的复杂可变多态性
影响因子：
30.8
作者：
N. Zhong;C. Dobkin;W. Brown
通讯作者：
W. Brown
NIGMS 人类/啮齿动物体细胞杂交图谱 1 和 2。
影响因子：
4.4
作者：
Drwinga,HL;Toji,LH;Kim,CH;Greene,AE;Mulivor,RA
通讯作者：
Mulivor,RA