Objective To determine the karyotype of a case with a history of spontaneous abortion and terminal deletion by using of conventional G banding method and search the cause of insertional translocation of chromosomal terminal region .

目的确定一个有反复流产史且常规G显带发现有7q 末端 缺失病例的核型，探讨染色体末端区域插入易位的形成机理。

Terminal 22q deletion syndrome : A newly recognized cause of speech and language dis - ability in the autism spectrum

22号染色体长臂 末端 缺失综合征：新发现的孤独症家系中语言功能障碍的病因

A lot of repeat sequences including insert sequences tandem repeat sequences and long terminal repeat were predicted which might be the result of adaption to new environment or the insertion and deletion of gene on a large scale .

预测发现该菌株具有大量的插入序列、串联重复序列和长 末端重复序列，其中插入序列的存在暗示该菌株在进化过程中发生了大规模的基因片段插入与 缺失。

Conclusion : The result showed that terminal deletion of Xq and telomeric deletion of X chromosome were important factors of premature ovarian failure .

结论：本文的研究结果提示X染色体长臂 末端可能是卵巢早衰的 特异性基因区段并与X染色体末端端粒的缺失有关。

Final results showed that the mutant with N terminal deletion of the first 7 amino acids maintained trace enzymatic activity ( less than 0.5 % ) while the mutant losing the first more than 8 amino acids was robbed of the enzymatic function completely .

结果表明，N 末端 缺失7个氨基酸的突变体几乎没有活性（小于天然活性的0.5%），N末端缺失8个以上氨基酸残基的突变体则完全丧失活性。