As a male-specific chromosome, the structure of Y chromosome is complex and lacks of recombination, with numerous repeating, amplifying and palindromic sequences. The research of Y chromosome is difficult and slow since there are few protein coding genes and a large amount of heterochromatin which has caused extreme difficulty for sequencing. In recent years, an increasing number of studies have been focused on the Y chromosome. With the completion of the sequencing of human Y chromosome, the rapid development of sequencing technology, and the composition of DNA sequences in human Y chromosomes and the determination of gene content. This paper has summarized the structural composition and genes function of human Y chromosome, as well as the related hereditary diseases, with an aim to provide reference for Y chromosome-related genetic research.
Chromosomes, Human, Y/genetics* ; Humans ; Male

Chromosomes, Human, Y ; DNA Fingerprinting ; Humans ; Male

The Y chromosome contains genes and gene families that play critical roles in the process of testis determination and differentiation. Male infertility can be induced by many factors, and extensive studies have strongly indicated that Y chromosome microdeletions are closely related to male reproductive dysfunction. Because most of the Y chromosome does not participate in sexual recombination, it has degenerated both in size and gene content, in comparison with the X chromosome. Consequently males may be faced with survival problems in the future. This article reviews the role of the Y chromosome in male infertility and the fate of the male in the future.
Chromosomes, Human, Y ; Humans ; Infertility, Male ; genetics ; Male

OBJECTIVETo evaluate the association of gr/gr deletion in the AZFc region of Y chromosome with idiopathic male infertility using Meta-analysis.

METHODSAll relevant case-control studies addressing the relationship between gr/gr deletion and idiopathic male infertility were identified from PubMed, VIP and CNKI (from January 2003 to August 2010). Statistical analyses were performed with the RevMan4. 2 software.

RESULTSTwenty eligible articles were selected in this study, including 5 246 cases of idiopathic infertility and 4 380 controls. The integrated data from the 20 studies revealed a significantly higher frequency of gr/gr deletion in the patients than in the controls, with an odds ratio (OR) of 1.63 (95% CI: 1.23 -2.44) (P = 0.002). However, when the Meta-analysis was limited to 16 studies with stricter case and control selection criteria, the overall OR increased to 1.84 (95% CI: 1.47 - 2.29) (P < 0.000 01). Thirteen studies showed that oligozoospermia patients had a significantly higher frequency of gr/gr deletion than controls (OR = 2.12, 95% CI: 1.61 - 2.80) (P < 0.000 01). Eight studies showed a significant association between the gr/gr deletion subtype without DAZ1/DAZ2 gene copies and spermatogenic impairment (OR = 1.83, 95% CI: 1.31 - 2.55) (P = 0.000 4), but no statistically significant differences were found in the frequency distribution of the gr/gr deletion subtype missing DAZ3/DAZ4 gene copies between the patients and controls (OR = 1.43, 95% CI: 0.97 -2.11) (P = 0.07).

CONCLUSIONThe present data suggest that gr/gr deletion may be one of the risk factors of male infertility.

Chromosome Deletion ; Chromosomes, Human, Y ; Humans ; Infertility, Male ; genetics ; Male

OBJECTIVE: To carry out prenatal diagnosis and genetic analysis for a fetus with disorders of sex development (DSDs). METHODS: A fetus with DSDs who was identified at the Shenzhen People's Hospital in September 2021 was selected as the study subject. Combined molecular genetic techniques including quantitative fluorescence PCR (QF-PCR), multiplex ligation-dependent probe amplification (MLPA), chromosomal microarray analysis (CMA), quantitative real-time PCR (qPCR), as well as cytogenetic techniques such as karyotyping analysis and fluorescence in situ hybridization (FISH) were applied. Ultrasonography was used to observe the phenotype of sex development. RESULTS: Molecular genetic testing suggested that the fetus had mosaicism of Yq11.222qter deletion and X monosomy. Combined with the result of cytogenetic testing, its karyotype was determined as mos 45,X[34]/46,X,del(Y)(q11.222)[61]/47,X,del(Y)(q11.222),del(Y)(q11.222)[5]. Ultrasound examination suggested hypospadia, which was confirmed after elective abortion. Combined the results of genetic testing and phenotypic analysis, the fetus was ultimately diagnosed with DSDs. CONCLUSION This study has applied a variety of genetic techniques and ultrasonography to diagnose a fetus with DSDs with a complex karyotype.
Prenatal Diagnosis ; Mosaicism ; Chromosomes, Human, X ; Chromosomes, Human, Y ; Humans ; Male

OBJECTIVETo investigate the origin of a rare supernumerary chromosome in a patient with premature ovarian failure (POF), and to explore the relationship between this abnormal karyotype and pathogenesis of POF.

METHODSGTG banding karyotyping, Q-banding and fluorescence in situ hybridization (FISH) were employed for the investigation.

RESULTSThe extra chromosome was identified as i(Y)(q10) by FISH with a panel of sex chromosome probes. The patient's karyotype was described as: 47,XX,+ ish mar i(Y)(q10) (DXZ1-, SRY-, DYZ3+, DYZ1++, wcpY+).

CONCLUSIONCo-occurrence of the supernumerary i(Y)(q10) with a female kryotype is extremely rare. This supernumerary chromosome may cause failure of X chromosomes synapsis during pachytene of meiosis I, which may trigger apoptosis of many oocytes and result in POF of the patient. Q-banding, FISH and multiple probes have been critical for accurate diagnosis of the unknown chromosome.

Chromosome Aberrations ; Chromosomes, Human, Pair 10 ; Chromosomes, Human, Y ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Karyotype ; Primary Ovarian Insufficiency ; genetics

OBJECTIVE: To explore the etiology of a patient with Kallmann syndrome (congenital hypogonadism and anosmia) and a 45,X/46,XY karyotype. METHODS: Peripheral venous blood samples were collected from the proband and his parents and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing. RESULTS: The proband was found to harbor compound heterozygous variants of the PROKR2 gene, namely c.533G>C (p.W178S) and c.308C>T (p.A103V), which were inherited from his father and mother, respectively. The two variants were respectively predicted to be likely pathogenic and variant of unknown significance, respectively. CONCLUSION The reduced chromosomal mosaicism might have caused no particular clinical manifestations in this patient. For patients with features of Kallmann syndrome, genetic testing is conducive to early diagnosis and can provide a basis for genetic counseling and clinical treatment.
Humans ; Genetic Testing ; Hypogonadism/genetics* ; Kallmann Syndrome/genetics* ; Karyotype ; Mutation ; Exome Sequencing ; Chromosomes, Human, X/genetics* ; Chromosomes, Human, Y/genetics*

OBJECTIVETo analyze the numerical aberration of chromosome X, Y and 18 in the spermatozoa of asthenospermia patients by triple-color fluorescence in situ hybridization.

METHODSThe experiment included 10 asthenospermia patients and 5 healthy men with normal semen quality as controls. Fluorescence in situ hybridization (FISH) and probes for chromosomes including X, Y and 18 were used to determine the frequency of the aneuploid of the chromosomes in spermatozoa.

RESULTSOf the 45,547 spermatozoa counted from the semen samples, the hybridization rate was 99.18%. The frequencies of the chromosome disomies including XX18, XY18, YY18, X1818 and Y1818 were (0.124 +/- -0.086)%, (0.360 +/- 0.380)%, (0.109 +/- 0.195)%, (0.342 +/- 0.746)% and (0.299 +/- 0.564)% in the case group and (0.014 +/- 0.019)%, (0.090 +/- 0.080)%, (0.030 +/- 0.031)%, (0.068 +/- 0.103)% and (0.075 +/- 0.083)% in the control. The sperm aneuploid rate was 9.25% in the former and 2.70% in the latter, with significant difference in between (P< 0.01).

CONCLUSIONAsthenospermia patients have a higher aneuploid rate of sperm chromosome than normal fertile men. However, larger samples are yet to be studied to obtain more scientific evidence.

Aneuploidy ; Asthenozoospermia ; genetics ; Chromosome Painting ; methods ; Chromosomes, Human, Pair 18 ; Chromosomes, Human, X ; Chromosomes, Human, Y ; Humans ; Male ; Sex Chromosome Aberrations ; Spermatozoa ; metabolism

BACKGROUNDChromosomal aberrations are the major cause of pre- and post-implantation embryo wastage and some studies suggest that half of all human conceptions have a chromosomal abnormality. A chromosomal aberration in human sperms is also one of the causes of failure of in vitro fertilization. This study was designed to ascertain whether chromosomal aneuploidy in spermatozoa is a risk factor for male infertility.

METHODSTwelve infertile men were divided into two groups: 10 with oligoasthenoteratozoospermia (OAT, Group A) and two with a normal semen analysis (Group B). Two normal healthy sperm donors acted as controls (Group C). We used fluorescence in situ hybridization (FISH) and probes for chromosomes X, Y and 18 to determine the frequency of aneuploidy.

RESULTSThe frequencies of spermatozoa disomy for chromosomes X, Y and 18 were 0.30% and 0.30%, respectively, in Group B. The percentages were not significantly different from those of Group C (0.15% and 0.16%). The frequencies of nullisomy for chromosomes X, Y and 18 were 0.15% and 0 for Group B, and 0 and 0.15% for Group C (P > 0.05). In Group A, the incidences of disomy were 1.13% and 0.96% and the frequencies of nullisomy were 1.13% and 1.60%. In these three groups, the incidences of diploidy were 0.60%, 1.00%, and 0.30%, respectively. Both the frequencies of disomic and nullisomic spermatozoa for chromosomes X, Y, and 18 and of diploid spermatozoa were significantly higher in Group A than in Groups B and C. The estimated total aneuploidy rates in the sperm from the three groups were 42.44%, 6.05%, and 2.59%, respectively.

CONCLUSIONThese results indicate that chromosomal aneuploidy in spermatozoa may be a risk factor for infertility.

Adult ; Aneuploidy ; Chromosomes, Human, Pair 18 ; Chromosomes, Human, X ; Chromosomes, Human, Y ; Humans ; In Situ Hybridization, Fluorescence ; Infertility, Male ; etiology ; genetics ; Male ; Risk Factors

BACKGROUND: It has been proposed that the long arm of the human Y chromosome contains AZF (the azoospermia factor), the gene or genes that control spermatogenesis. In this study, I detected microdeletions on the long arm of the Y chromosome and analysed the relationship between the microdeletion detected and the failure of spermatogenesis in the patients investigated. METHODS: In this study, I analyzed 35 infertile patients, including 21 azoospermia and 14 oligospermia. Genomic DNAs were isolated from peripheral blood samples. Each sample was examined for the presence or absence of the total 9 Y-DNA landmarks on the Y chromosome including those deleted in the azoospermia and Y-chromosome RNA recognition motif (RBM1), using the polymerase chain reaction amplification. RESULTS: I detected microdeletions on the long arm of the Y chromosome in 4 patients with azoospermia. All 4 samples with microdeletions of the Y chromosome were identified with microdeletions of multiple loci. The microleletion incidence was 2.9% for sY143 and 11.4% for other loci (sY152, sY153 and sY255). But, the microdeletion of RBM1 was not identified. CONCLUSIONS: Even though the microdeletion analysis of the Y chromosome was not fully performed, this report suggests the presence of microdeletions within the Y chromosome in patients with azoospermia, supporting the relationship between the chromosomal region involved and the process of sper-matogenesis.
Arm ; Azoospermia* ; Chromosomes, Human, Y ; DNA ; Humans ; Incidence ; Male ; Oligospermia* ; Polymerase Chain Reaction ; RNA ; Spermatogenesis ; Y Chromosome*