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首页> 外文期刊>Balkan journal of medical genetics: BJMG >A HOMOZYGOUS DELETION OF THE DPY19L2 GENE IS A CAUSE OF GLOBOZOOSPERMIA IN MEN FROM THE REPUBLIC OF MACEDONIA
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A HOMOZYGOUS DELETION OF THE DPY19L2 GENE IS A CAUSE OF GLOBOZOOSPERMIA IN MEN FROM THE REPUBLIC OF MACEDONIA

机译：DPY19L2基因的同质缺失是马其顿共和国男性球孢子虫的原因

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摘要

Globozoospermia is a rare but severe terato-zoospermia, characterized by ejaculates consisting completely of round-headed spermatozoa that lack an acrosome or, in partial globozoospermia, containing a variable proportion (20.0-90.0%) of acrosomeless spermatozoa. Men that are affected with total globozoospermia are infertile, and even the application of intracytoplasmic sperm injection (ICSI) has met with disappointingly low success rates. In humans, several case reports of globozoospermia have demonstrated that two or more siblings were affected in each family, which suggested a genetic component to this disease. Currently, three genes are known to be associated with total globozoospermia in humans, SPATA16, PICK1 and DPY19L2 genes. Mutations in SPATA16 and PICK1 are rare causes of globozoospermia, found in only one patient each. Several studies have suggested that DPY19L2 mutations are the major cause of globozoospermia in patients from different ethnic origins and different geographic regions. The most common DPY19L2 mutation is the 200 kb deletion arising from a nonallelic homologous recombination (NAHR) between the flanking low copy repeats (LCRs). Here we describe the presence of a homozygous deletion of the DPY19L2 gene in two infertile Macedonian patients with 100.0% round headed spermatozoa, thus suggesting that this deletion represents a major cause of globozoospermia among Macedonian men.
机译：球形精子症是一种罕见的但严重的畸胎性精子症，其特征是射精完全由缺乏顶体的圆头精子组成，或部分球状精子中含有可变比例（20.0-90.0％）的无顶体精子。患有总精子球虫症的男性不育，甚至使用胞浆内精子注射（ICSI）的成功率也令人失望地低。在人类中，几例球孢子症的病例报告表明，每个家庭有两个或两个以上的兄弟姐妹受到影响，这表明该疾病的遗传因素。当前，已知三种基因与人的总球孢子症有关，即SPATA16，PICK1和DPY19L2基因。 SPATA16和PICK1中的突变是引起少精子症的罕见原因，每位仅一名患者。多项研究表明，DPY19L2突变是来自不同种族起源和不同地理区域的患者精子症的主要原因。最常见的DPY19L2突变是200 kb的缺失，该缺失是由两侧的低拷贝重复序列（LCR）之间的非等位基因同源重组（NAHR）引起的。在这里，我们描述了两名具有100.0％圆头精子的不育马其顿患者中DPY19L2基因纯合缺失的存在，因此表明该缺失代表了马其顿男性中球孢子症的主要原因。

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