CN113308531B - Application of TEX11 gene pathogenic mutation in preparation of diagnostic kit for detecting non-obstructive azoospermia - Google Patents
Application of TEX11 gene pathogenic mutation in preparation of diagnostic kit for detecting non-obstructive azoospermia Download PDFInfo
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Abstract
The invention relates to the technical field of biology, in particular to application of a TEX11 gene pathogenic mutation in preparation of a diagnostic kit for detecting non-obstructive azoospermia. According to the invention, peripheral blood DNA is extracted firstly, then PCR amplification is carried out on a target gene, and finally a method for detecting gene mutation sites by Sanger sequencing is adopted, so that the pathogenic mutation of the TEX11 gene is finally verified in 4 families respectively: family 1: NM-001003811: c.G2613T: p.W871C; family 2: NM-001003811 c.1426-1C > T; family 3: NM-001003811 c.1796+2T > G; family 4: NM-001003811: c.857delA: p.K286R fs.5. Its advantages are: the invention provides an effective approach for gene diagnosis, prenatal gene screening and genetic consultation of the non-obstructive azoospermia.
Description
Technical Field
The invention relates to the technical field of biology, in particular to application of a TEX11 gene pathogenic mutation in preparation of a diagnostic kit for detecting non-obstructive azoospermia.
Background
The birth is a complex process, which cannot be completed by a single individual, but depends on both men and women, and can be successfully completed only under the condition that the conditions of both parties are proper. According to WHO statistics, there are various degrees of fertility impairment in about every seven couples, of which nearly half is related to male factors, and is called male infertility. Male infertility imposes a heavy mental and economic burden on individuals and families, and becomes one of unstable factors of families and society. Therefore, male infertility has gradually become a global public social problem and is one of the important contents of reproductive health services in many countries.
Among all causes of male infertility, azoospermia is one of the most common causes, accounting for approximately 1% in adult males. Azoospermia refers to the absence of sperm in the semen after three normal ejaculations. It can be divided into obstructive and non-obstructive azoospermia. The Obstructive Azoospermia (OA) is caused by obstruction of the spermatic duct, and the non-obstructive azoospermia (NOA) is caused by spermatogenesis disorder of male testis, the number and the form of sperms of the male testis are poor, the sperm motility of all the testis is low or has no motility, and the harm degree is far greater than the OA. The causes of NOA are many, including genetic diseases (e.g., Klinefelter's syndrome), congenital testicular abnormalities, testicular pathological changes (e.g., testicular trauma, inflammation, torsion, and testicular vasculopathy), endocrine diseases (e.g., hypophysial hyperactivity or hypofunction, pituitary tumors, adrenal hyperactivity or hypofunction, and hyperthyroidism or hypothyroidism), severe systemic diseases and malnutrition, and radiation injuries and drugs. It is noteworthy that a significant number of NOAs are clinically unexplained and their early diagnosis and treatment is more difficult. In China, about 25% of male infertility is NOA, so the NOA, especially the NOA with unknown clinical reasons, is not only one of the most main threats to the reproductive health of adult males in China, but also a serious problem for treating the male infertility.
At present, the primary diagnosis methods of NOA mainly comprise disease history inquiry, physical examination, semen parameters, seminal plasma biochemistry, blood sex hormone detection, B-ultrasonography, chromosome detection and the like. The diagnostic examination and treatment manual of male sterility by the world health organization indicates that: azoospermia means that the density of sperm is equal to 0, and sperm cannot be found even by examination after centrifugation of semen. The semen is usually not seen in 3 times of centrifugal microscopic examination clinically, and meanwhile, patients with azoospermia can be diagnosed after no ejaculation and retrograde ejaculation are eliminated. At present, conventional sperm density analysis mainly depends on sperm density judgment (manual counting or analysis by using a computer-aided system, namely CASA), other effective means are not available, but certain defects exist in the conventional sperm density analysis, such as large fluctuation of the quality of the semen of an individual, and the conventional sperm density analysis is particularly easily influenced by factors such as abstinence days, temperature, a semen collection method and the like, so that the sperm density measurement is inaccurate; the early diagnosis of the corresponding diseases is also far from being satisfactory. And the testicle aspiration biopsy is often needed for definite diagnosis, which brings great pain to people seeking fertility help. Although researchers at home and abroad are trying to explore new NOA diagnosis biomarkers and effectively supplement the existing assessment means, the bottlenecks in the development of the traditional biomarkers and the practical application of male reproduction, namely invasive puncture biopsy, fluctuation of semen quality analysis results, difficulty in early diagnosis and the like are difficult to break through. In addition, because the etiology is unknown and effective treatment means are lacked, most NOA patients can only select auxiliary fertility means such as ICSI or AID, so that the psychological requirements cannot be met, and genetic defects of offspring can occur.
Research has shown that genetic factors are the main factors causing male infertility, and Single Nucleotide Polymorphisms (SNPs) play an important role therein. An SNP refers to a polymorphism in a DNA sequence caused by a variation of a single nucleotide at the genomic level. It is the most common of the human heritable variations. The presence of SNPs is thought to confer different phenotypic traits to individuals, as well as different reactivities to environmental exposure, drug treatment, etc., and thus SNPs may be an important genetic basis for the differences in susceptibility of individuals to common disease pathogenesis and prognosis. The method utilizes the SNP spectrum which is susceptible to diseases to predict the occurrence of the diseases, not only is sensitive, accurate and rapid, but also has wide application prospect, and can realize the ideal of 'medical treatment and disease avoidance' in Chinese ancient languages through the construction of the SNP prediction spectrum, and make prospective 'gene diagnosis' on the diseases. In recent years, the prediction of the occurrence and development of diseases by using SNP has become a research hotspot of clinical and scientific research workers, and the application value of the method in the prediction of common and serious diseases such as tumors, cardiovascular and cerebrovascular diseases and the like is discovered for a long time.
However, at present, there is no report of applying SNP to NOA diagnosis of unknown clinical reasons, if SNP susceptible to NOA of unknown clinical reasons can be screened out as a biomarker and a corresponding diagnostic kit is developed, the current state of NOA diagnosis of unknown clinical reasons in China is forced to be promoted once, and a new way is opened for drug screening, drug effect evaluation and targeted therapy.
Aiming at the defects of the prior art, the invention creatively provides the relationship between the pathogenic mutation of the TEX11 gene and the non-obstructive azoospermia, and the experimental result shows that the SNP site of the gene and the detection primer thereof can be effectively used for quickly detecting the mutation site of the TEX11 gene of clinical patients and fetal villi or amniotic fluid, can effectively realize individualized precise treatment, reduces the economic burden of the patients and has a promoting effect on the realization of the development policy of the healthy China. The application of the pathogenic mutation of the TEX11 gene in the preparation of a diagnostic kit for detecting the non-obstructive azoospermia is not reported at present.
Disclosure of Invention
The invention aims to overcome the defects of the prior art and provides application of pathogenic mutation of a TEX11 gene in preparation of a diagnostic kit for detecting non-obstructive azoospermia.
In order to achieve the purpose, the invention adopts the technical scheme that:
in a first aspect, the invention provides a diagnostic kit for detecting non-obstructive azoospermia, which comprises a reagent for detecting a mutation site of a gene TEX11, wherein the number of the TEX11 mutation sites is four, and the four mutation sites are respectively as follows: (1) NM-001003811: c.G2613T: p.W871C SNP site; (2) NM-001003811 c.1426-1C > T SNP site; (3) NM-001003811 c.1796+2T > G SNP site; (4) NM-001003811: c.857delA: p.K286R fs 5SNP site.
Further, the reagent for detecting the mutation site of the gene TEX11 is a primer comprising a detection gene TEX11 SNP site.
Further, the reagent for detecting the SNP sites of NM-001003811: c.G2613T: p.W871C comprises a primer pair for detecting the SNP sites of NM-001003811: c.G2613T: p.W871C, and the primer pair for the SNP sites of NM-001003811: c.G2613T: p.W871C is shown as SEQ ID NO.1 and SEQ ID NO. 2.
Further, the reagent for detecting NM-001003811: c.1426-1C > T SNP site comprises a primer pair for detecting NM-001003811: c.1426-1C > T SNP site, and the primer pair for detecting NM-001003811: c.1426-1C > T SNP site is shown as SEQ ID NO.3 and SEQ ID NO. 4.
Further, the reagent for detecting NM-001003811: c.1796+2T > G SNP site comprises a primer pair for detecting NM-001003811: c.1796+2T > G SNP site, and the primer pair for detecting NM-001003811: c.1796+2T > G SNP site is shown as SEQ ID NO.5 and SEQ ID NO. 6.
Further, the reagent for detecting NM-001003811: c.857delA: p.K286Rfs + 5SNP site comprises a primer pair for detecting NM-001003811: c.857delA: p.K286Rfs + 5SNP site, and the primer pair for detecting NM-001003811: c.857delA: p.K286Rfs + 5SNP site is shown as SEQ ID NO.7 and SEQ ID NO. 8.
In a second aspect, the present invention provides a specific primer for detecting a SNP marker for non-obstructive azoospermia, the specific primer consisting of: the primers of NM-001003811, c.G2613T, p.W871C are shown as SEQ ID NO.1 and SEQ ID NO. 2; NM-001003811 c.1426-1C > T primers are shown in SEQ ID NO.3 and SEQ ID NO. 4; the primer of NM-001003811 c.1796+2T > G is shown in SEQ ID NO.5 and SEQ ID NO. 6; primers for NM-001003811: c.857delA: p.K286R fs 5 are shown in SEQ ID NO.7 and SEQ ID NO. 8.
The invention has the advantages that:
the invention carries out deep and comprehensive research on the genetics of the non-obstructive azoospermia to obtain 4 TEX11 mutation sites as a genetic biomarker for diagnosing the non-obstructive azoospermia. The research can well overcome the defects of invasive diagnosis or treatment in the prior art, can effectively realize the establishment of an accurate individualized treatment scheme, can reduce the economic burden of patients, has a promoting effect on the realization of development guidelines in healthy China, and the experimental result shows that the SNP locus and the detection primer of the gene provided by the invention can be effectively used for the rapid detection of the TEX11 gene mutation locus of clinical patients and fetal villi or amniotic fluid, and have strong practicability and good application prospects.
Drawings
FIG. 1 shows the result of sequencing and detecting gene mutation sites by family 1 Sanger.
FIG. 2 shows the result of the family 2Sanger sequencing for detecting the gene mutation site.
FIG. 3 shows the results of the family 3Sanger sequencing for detecting the gene mutation sites.
FIG. 4 shows the result of detecting the mutation site of the gene by family 4Sanger sequencing.
Detailed Description
The invention will be further illustrated with reference to specific embodiments. It should be understood that these examples are for illustrative purposes only and are not intended to limit the scope of the present invention. Furthermore, it should be understood that various changes and modifications can be made by those skilled in the art after reading the disclosure of the present invention, and equivalents fall within the scope of the appended claims.
Examples
1 method
1.1 peripheral blood DNA extraction (TIAnamp Genomic DNAkit, DP:304)
1) Extracting 2-5ml of peripheral venous blood of a first family member on the basis of meeting the national relevant policy and agreeing with a sampling object, and putting the peripheral venous blood into an EDTA anticoagulation tube for freezing at-80 ℃ for later use;
2) taking 200ul of cryopreserved blood, adding 20ul of protease K solution, and uniformly mixing;
3) adding 200ul buffer solution GB, fully reversing and uniformly mixing, standing at 70 ℃ for 10min, strain-clearing the solution, and centrifuging briefly to remove water drops on the inner wall of the tube cover;
4) adding 200 μ L of anhydrous ethanol, shaking thoroughly for 15s to obtain flocculent precipitate, and centrifuging briefly to remove water drop on the inner wall of the tube cover;
5) adding the solution and flocculent precipitate obtained in the previous step into an adsorption column CB3 (the adsorption column is put into a collecting pipe), centrifuging at 12,000rpm (13,400 Xg) for 30s, pouring off waste liquid, and putting adsorption column CB3 back into the collecting pipe.
6) Adding 500 μ L buffer GD (before use, check whether absolute ethyl alcohol is added or not), centrifuging at 12,000rpm (13,400 Xg) for 30s, pouring off waste liquid, and placing adsorption column CB3 into a collection tube;
7) 600uL of the rinsing solution PW (previously used to check whether absolute ethanol has been added) was added to the adsorption column CB3, and the column was centrifuged at 12,000rpm (13,400 Xg) for 30 seconds to remove the waste liquid, and the adsorption column CB3 was placed in the collection tube.
8) Adding 600uL of rinsing liquid PW repeatedly for one time;
9) placing adsorption column CB3 back into the collection tube, centrifuging at 12,000rpm (13,400 Xg) for 2min, pouring off waste liquid, placing adsorption column CB3 at room temperature for several minutes to thoroughly air-dry the residual rinsing liquid in the adsorption material;
10) transferring the adsorption column CB3 into a clean centrifuge tube, suspending and dripping 40ul deionized water into the middle part of the adsorption membrane, standing at room temperature for 2-5min, centrifuging at 12,000rpm (13,400 Xg) for 2min, and collecting the solution into the centrifuge tube.
1.2 PCR amplification of the Gene of interest (
PCR Master Mix(With Dye))
PCR amplification of target fragment, reaction conditions and reaction system:
reaction system (50ul)
And (3) amplification procedure: and (3) PCR reaction conditions: 5min at 94 ℃; 30s at 94 ℃, 30s at 55 ℃, 30s at 72 ℃ and 30-35 cycles; 10min at 72 ℃.
Note: the primer F corresponds to the primer F of the family 1-4 in the table 1, and the primer R corresponds to the primer R of the family 1-4 in the table 1.
The primer list is shown in Table 1.
TABLE 1 primer List
1.3 Sanger sequencing detection of Gene mutation sites
Sequencing a PCR product: the PCR products were sequenced using conventional Sanger sequencing.
2 results
The TEX11 gene was verified in four families, respectively: family 1: NM-001003811: c.G2613T: p.W871C; family 2: NM-001003811 c.1426-1C > T; family 3: NM-001003811 c.1796+2T > G; family 4: NM-001003811: c.857delA: p.K286R fs.5.
The same site mutation frequency in the population was not found in GnomAD; the Mutation of the four mutations was found to be discrete using the Mutation predictor (see FIGS. 1-4 for results). Multiple sequencing results indicated that the mutation site was not introduced due to amplification or sequencing errors. The site was screened for mutations in the genomic DNA samples of the peripheral blood of 200 normal local populations and normal individuals in this family, and no such mutations were found.
The foregoing is only a preferred embodiment of the present invention, and it should be noted that, for those skilled in the art, various modifications and additions can be made without departing from the principle of the present invention, and these should also be considered as the protection scope of the present invention.
SEQUENCE LISTING
<110> first-person hospital in Shanghai City
Application of TEX11 gene pathogenic mutation in preparation of diagnostic kit for detecting non-obstructive azoospermia
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Claims (7)
1. A diagnostic kit for detecting non-obstructive azoospermia is characterized by comprising a reagent for detecting a mutation site of a gene TEX11, wherein the number of the TEX11 mutation sites is four, and the four mutation sites are respectively as follows: (1) NM-001003811: c.G2613T: p.W871C SNP site; (2) NM-001003811 c.1426-1C > T SNP site; (3) NM-001003811 c.1796+2T > G SNP site; (4) NM-001003811: c.857delA: p.K286R fs 5SNP site.
2. The diagnostic kit of claim 1, wherein the reagent for detecting the mutation site of gene TEX11 is a primer comprising the site of SNP of gene TEX 11.
3. The diagnostic kit of claim 2, wherein the reagent for detecting the SNP site of NM-001003811: c.G2613T: p.W871C comprises a primer pair for detecting the SNP site of NM-001003811: c.G2613T: p.W871C, and the primer pair for detecting the SNP site of NM-001003811: c.G2613T: p.W871C is shown as SEQ ID No.1 and SEQ ID No. 2.
4. The diagnostic kit of claim 2, wherein the reagent for detecting NM-001003811: c.1426-1C > T SNP site comprises a primer pair for detecting NM-001003811: c.1426-1C > T SNP site, and the primer pair for detecting NM-001003811: c.1426-1C > T SNP site is shown as SEQ ID No.5 and SEQ ID No. 6.
5. The diagnostic kit of claim 2, wherein the reagent for detecting NM-001003811: c.1796+2T > G SNP site comprises a primer pair for detecting NM-001003811: c.1796+2T > G SNP site, and the primer pair for detecting NM-001003811: c.1796+2T > G SNP site is shown as SEQ ID No.3 and SEQ ID No. 4.
6. The diagnostic kit of claim 2, wherein the reagent for detecting NM-001003811: c.857delA: p.K286Rfs.5 SNP site comprises a primer set for detecting NM-001003811: c.857delA: p.K286Rfs.5 SNP site, and the primer set for NM-001003811: c.857delA: p.K286Rfs.5 SNP site is shown as SEQ ID No.7 and SEQ ID No. 8.
7. Specific primers for detecting SNP markers for non-obstructive azoospermia, characterized in that the specific primers consist of the following primer pairs: primer pairs of NM-001003811, c.G2613T, p.W871C are shown as SEQ ID NO.1 and SEQ ID NO. 2; the primer pair of NM-001003811 c.1426-1C > T is shown as SEQ ID NO.5 and SEQ ID NO. 6; the primer pair of NM-001003811 c.1796+2T > G is shown in SEQ ID NO.3 and SEQ ID NO. 4; the primer pair of NM-001003811: c.857delA: p.K286R fs.5 is shown in SEQ ID NO.7 and SEQ ID NO. 8.
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Citations (2)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| CN102399898A (en) * | 2011-12-09 | 2012-04-04 | 南京医科大学 | Single nucleotide polymorphism (SNP) marker related with clinically cryptogenic non-obstructive azoospermia aided diagnosis and application of SNP marker |
| CN105506110A (en) * | 2015-12-31 | 2016-04-20 | 杭州艾迪康医学检验中心有限公司 | Method and primer for detecting 8th and 25th whole exons of TEX11 gene |
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Patent Citations (2)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| CN102399898A (en) * | 2011-12-09 | 2012-04-04 | 南京医科大学 | Single nucleotide polymorphism (SNP) marker related with clinically cryptogenic non-obstructive azoospermia aided diagnosis and application of SNP marker |
| CN105506110A (en) * | 2015-12-31 | 2016-04-20 | 杭州艾迪康医学检验中心有限公司 | Method and primer for detecting 8th and 25th whole exons of TEX11 gene |
Non-Patent Citations (4)
| Title |
|---|
| Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men;Cannarella et al;《Genet Med》;20210203;第22卷(第12期);第1956-1966页 * |
| Next-generation sequencing: toward an increase in the diagnostic yield in patients with apparently idiopathic spermatogenic failure;Rossella Cannarella et al;《Asian J Androl》;20200710;第23卷(第11期);第24-29页 * |
| TEX11 is mutated in infertile men with azoospermia and regulates genome-wide recombination rates in mouse;Fang Yang et al;《EMBO Mol Med》;20150701;第7卷(第9期);第1198-1210页 * |
| 非梗阻性无精子症患者X染色体连锁的TEX11基因多态性研究;罗招云等;《分子诊断与治疗杂志》;20200118;第12卷(第1期);第59-63页 * |
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