CAG repeat length variation in sperm from a patient with Kennedy's disease.
CAG repeat length variation in sperm from a patient with Kennedy's disease.
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DOI：
10.1093/hmg/4.2.303
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发表时间：
1995-02
影响因子：
3.5
通讯作者：
Lin Zhang;K. Fischbeck;Norman Arnhelm
中科院分区：
文献类型：
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作者：
Lin Zhang;K. Fischbeck;Norman Arnhelm
使用改进的精子分型方案，使用来自脊髓和球性肌萎缩症（SBMA）患者的罕见精液样本测量雄激素受体位点CAG重复区域的突变频率。在258个含有X染色体的精子中，19%的重复次数等于供体的体细胞DNA（47次重复），66%是扩张，15%是收缩。平均扩增次数为2.7次。超过一半的扩张涉及一两次重复；最大的是11次重复。68%的收缩也是1 -2次重复，但有6例（16%）收缩非常大（12-25次重复）。一次收缩产生了一个中等大小的等位基因（33-39次重复）。这些等位基因在900多条正常和SBMA x染色体中未被发现。将SBMA精子分型结果与正常等位基因的突变频率数据进行比较，支持三核苷酸重复扩增可能与收缩具有不同分子起源的假设。
Using a modified sperm typing protocol, the mutation frequency of the CAG repeat region at the androgen receptor locus has been measured using a rare semen sample from an individual with spinal and bulbar muscular atrophy (SBMA). Among 258 X chromosome-containing sperm, 19% had a repeat number equal to the donor's somatic DNA (47 repeats), 66% were expansions and 15% were contractions. The average expansion was 2.7 repeats. More than half of the expansions involved one or two repeats; the largest was 11 repeats. 68% of the contractions were also one or two repeats but six (16%) were very large (12-25 repeats). One contraction generated an allele in an intermediate size range (33-39 repeats). Such alleles have not been observed among more than 900 normal and SBMA X-chromosomes that have been examined. Comparison of the SBMA sperm typing results with mutation frequency data on normal alleles supports the hypothesis that trinucleotide repeat expansions may have a different molecular origin than contractions.