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The Primary Investigation of PICK1, Related with Globozoospermia

Author: ShiQiuZuo
Tutor: LuGuang
School: Central South University
Course: Of Medical Genetics
Keywords: Round azoospermia PICK1 Genetic screening Pathogenesis
CLC: R698
Type: Master's thesis
Year: 2008
Downloads: 90
Quote: 0
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Abstract


Acrosome is a cap -like structure of the mature sperm head , lysosome-like organelles that originated in the Golgi apparatus , sperm-egg binding step in the fertilization process played an important role . Acrosome generated obstacles lead to the acrosome missing or deformity of the typical characteristics of the Round azoospermia . Several gene knockout mouse model performance similar phenotype head azoospermia patients , but not yet in the head azoospermia patients screened mutations in these genes . Recently , researchers in the protein kinase C -interacting protein 1 ( of PICK1 ) knockout mouse model also found people Round azoospermia similar phenotype , first proposed international PICK1 Round azoospermia candidate genes . Objective: genetic screening of patients on the four the type Ⅰ Round azoospermia , research head azoospermia patients PICK1 gene mutation exists . And clarify mPICK1 expression and distribution in the different developmental stages of mouse testis . : Extract the peripheral blood of patients with head azoospermia gDNA by polymerase chain reaction (polymerase chain reaction, PCR) amplification of a round head azoospermia patients PICK1 gene exon sequencing to detect mutations in the amplified fragment , with restrictions sexual restriction analysis to verify that the mutation . RT-PCR to detect adult mice mPICK1 tissue expression profiling , in situ hybridization experiments study mPICK1 distribution of spermatogenic cells in adult mice , Real-Time PCR to detect changes in the expression of different developmental stages of mouse testis mPICK1 . Results : In the patients screened PICK1 cDNA G1567A (G-> R) homozygous mutation . Pvu Ⅱ restriction detection , patients with two mutations lead to the restriction sites disappear the normal 100 Donors results , G1567A homozygous mutation detection . RT-PCR results showed that expression mPICK1 in adult mice organizations are the highest expression levels in the brain and testes ; situ hybridization showed that mPICK1 expression in spermatocytes of adult mouse testis and sperm cells ; Real-Time PCR the mPICK1 were expressed in the different developmental stages of the mouse testis . Conclusion: found in patients two the PICK1 homozygous mutation G1567A (G-> R) for international first reported in patients screened Round azoospermia gene mutations . The PICK1 genes involved in the process of spermatogenesis .

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