Azospermili, Oligozoospermili ve Normozoospermili Erkeklerde Y Kromozomu Mikrodelesyonlarının Polimeraz Zincir Reaksiyonu ile Araştırılması
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Date
2004
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Kadir Has Üniversitesi
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Abstract
İnfertilitenin tanı ve tedavisi, bilimsel araştırmaların önemli bölümünü oluşturmaktadır. Çiftlerin yaklaşık % 15'i infertiliteye sahiptir. Bu çiftlerin yaklaşık yansı erkek infertilidir. Genetik etiyoloji, erkek infertilitesinde belirgin rol oynamaktadır. înfertiliteyle ilgili günümüzdeki çalışmalar, erkek infertilitesinin genetik sebeplerini anlamaya çalışmaktadır. Y kromozomu delesyonlan, ağır erkek infertilitesi ile ilişkilidir. Karyotip analizi ve sitogenetik yöntemlerle yapılan çalışmalarda, Y kromozomunun spermatogenezdeki önemi anlaşılmıştır. Y kromozomunun uzun kolunun (Yq) distal bölgesindeki azospermi faktörü (AZF) bölgesi delesyonların spermatogenezi engellediği ortaya konmuştur. Bu çalışmada, Y kromozomunda AZF mikrodelesyonlarının varlığı araştırılmıştır. Bu amaçla azospermili, oligozoospermili ve normozoospermili 45 erkeğe polimeraz zincir reaksiyonu metodu ile mikrodelesyon analizi yapıldı. Y kromozomu mikrodelesyonlarmı tespit etmek için AZFa AZFb ve AZFc bölgelerine ait 2'şer adet sequence tagged sites (STS) bölgesi kullanıldı. Kullanılan STS bölgeleri AZFa için, sY84 ve sY86; AZFb için, sY127ve sY134; AZFc için ise, sY254 ve sY255'dir. Çalışmamızda azospermi grubundaki erkeklerden birinde 400 bç' lik sY254 (AZFc) ve 2 erkekte 126 bç' lik sY255 (AZFc) mikrodelesyonu bulundu. Oligozoospermi ve normozoospermi grubundaki erkeklerde araştırılan STS bölgelerine ait herhangi bir mikrodelesyon tespit edilmemiştir. Elde edilen sonuçlar, genetik faktörlerin infertil erkeklerde sperm üretimini etkileyebileceğini ve azospermili erkeklerde Y kromozomu mikrodelesyonlanmn infertilite sebebi olabileceğini göstermiştir.
The cause, diagnosis and treatment of infertility are important areas of scientific investigation. Approximately 15 % of all couples have infertility. It is generally accepted that nearly half of the infertile cases are attributed to male infertility. Genetic aetiologies play a prominent role in male infertility. Presently, much work is directed towards the understanding of genetic causes of male infertility. Y chromosome deletions are associated with severe male factor infertility. A significant role of the Y chromosome in spermatogenesis was established with karyotype and cytogenetic analysis. Deletions in the long arm distal region of the Y chromosome are known to prevent spermatogenesis. This region has been found to be effective in the regulation of spermatogenesis and named as azospermia factor (AZF). This study has investigated the presence of AZF microdeletions of Y chromosome in 45 men with azospermia, oligozoospermia and normozoospermia by using polimerase chain reaction method. In order to search Y chromosome microdeletions, 2 spesific STS's were studied from each AZF region. The analyzed STS regions were sY84 and sY86 for AZFa, sY127 and sY134 for AZFb and sY254 and sY255 for AZFc. In men with oligozoospermia and normozoospermia microdeletion was not detected within the analzed STS regions. Our results demonstrate that genetic factors may influence sperm production in infertile men and Y chromosome microdeletions may cause infertility in men with azospermia.
The cause, diagnosis and treatment of infertility are important areas of scientific investigation. Approximately 15 % of all couples have infertility. It is generally accepted that nearly half of the infertile cases are attributed to male infertility. Genetic aetiologies play a prominent role in male infertility. Presently, much work is directed towards the understanding of genetic causes of male infertility. Y chromosome deletions are associated with severe male factor infertility. A significant role of the Y chromosome in spermatogenesis was established with karyotype and cytogenetic analysis. Deletions in the long arm distal region of the Y chromosome are known to prevent spermatogenesis. This region has been found to be effective in the regulation of spermatogenesis and named as azospermia factor (AZF). This study has investigated the presence of AZF microdeletions of Y chromosome in 45 men with azospermia, oligozoospermia and normozoospermia by using polimerase chain reaction method. In order to search Y chromosome microdeletions, 2 spesific STS's were studied from each AZF region. The analyzed STS regions were sY84 and sY86 for AZFa, sY127 and sY134 for AZFb and sY254 and sY255 for AZFc. In men with oligozoospermia and normozoospermia microdeletion was not detected within the analzed STS regions. Our results demonstrate that genetic factors may influence sperm production in infertile men and Y chromosome microdeletions may cause infertility in men with azospermia.