Use of Ethnicity-Specific Sequence Tag Site Markers for Y Chromosome Microdeletion Studies

Sachdeva, Kabir; Saxena, Renu; Majumdar, Abha; Chadda, Sudhir; Verma, Ishwar C.

doi:10.1089/gtmb.2010.0159

Cited by 20 publications

(17 citation statements)

References 25 publications

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“…However, there have been growing concerns regarding the use of only these six markers considering the heterogeneity in the Yq sequences in different populations. Indeed, studies have shown high frequency of false negativity when only the six EAA markers have been used for analysis [26]. While no association was observed between the number of STS markers used for testing and the frequency of microdeletions, to test if only the EAA markers are sufficient in detecting the microdeletions in the Indian population, we compiled the data from studies were along with EAA, other markers (now on referred to as non-EAA markers) were used for detection of Yq microdeletions.…”

Section: Discussionmentioning

confidence: 99%

“…Beyond sample size and ethinicity, the markers used for microdeletion testing also influence the frequency. Yq microdeltion testing by PCR involves use of several unique Sequence Tag Site (STS) markers which are a determinant of the sensitivity and specificity for detection of deletions [26,28]. In the studies published from India, the numbers and types of STS markers used by different authors for detection of Yq microdeletions are not uniform, in some instances very limited and/or non conventional markers have been utilized [14,17,36] which could also be a possible reason for the observed variations.…”

Section: Introductionmentioning

confidence: 99%

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Y chromosome microdeletions in infertile men: prevalence, phenotypes and screening markers for the Indian population

Sen

Pasi

Dada

et al. 2013

J Assist Reprod Genet

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Purpose Yq microdeletions are the leading genetic cause of male infertility and its detection is clinically relevant for appropriate genetic counseling. We aimed to determine the prevalence and type of Yq microdeletions, the associated seminal phenotypes and the STS markers that are relevant for its testing in Indian population. Methods Yq microdeletion analysis was carried out in 1,636 infertile cases in our centers. Additional data was collected from published studies in Indian population leading to a total of 3,647 cases. Results In our cohort, 3.4 % (56/1,636) of infertile men had Yq microdeletions. Combining the data from other published studies identified 215/3,647 (5.8 %) infertile individuals to harbor Yq microdeletions; with 6.4 % in azoopsermia, 5.8 % in oligozoospermia and 3.2 % in oligoasthenozoospermia and teratozoospermia cases. No significant differences in the deletion frequencies were observed between idiopathic vs non idiopathic cases (5.8 vs 8.6 % respectively). Deletions of AZFc were at highest frequency (46.6 %) with double deletions most commonly observed in azoospermic subjects. With respect to the STS markers, screening with the six European Academy of Andrology (EAA) markers would miss 3

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Y chromosome microdeletions in infertile men: prevalence, phenotypes and screening markers for the Indian population

Sen

Pasi

Dada

et al. 2013

J Assist Reprod Genet

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“…Studies have good methodological accuracy. The sample universe is quite heterogeneous, given the very design of the studies (22 case reports with 02 individuals up to 33 cross-sectional studies with 4, 441 individuals), age differences between individuals in the samples ranging from 17 years [10] to 66 years [21], as well as the origin of the patients who were: India [2,23,25,35], Brazil [3,31,34,36], China [4,10,17,18], Iran [1,7,19,21] Turkey [5,26,27] [20], Denmark [37], USA [22], england [38], Mexico [30], Serbia [28] and Venezuela [32]. Because of this situation, the data becomes divergent and the comparative analysis becomes troublesome.…”

Section: Resultsmentioning

confidence: 99%

“…al. [2] detected by analyzing 200 infertile men in India, microdeletions in 21 (10.5%). Among them, 13 were in cases of azoospermia and eight in cases of severe oligozoospermia.…”

Section: J Med Genetmentioning

confidence: 99%

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Y-chromosome microdeletion and male infertility: a systematic review

Filho¹,

Ghirelli-Filho²,

Lacerda-Pinheiro³

et al. 2015

Int Arch Med

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Objective: evaluate the current evidence regarding different aspects (epidemiological, histological, physiological and genetic) of male infertility caused by Y-chromosome microdeletion. Material and Methods:A systematic review of articles from January 1 st , 1996 and February 28 th , 2014 present in two databases: MeDLINe and ScieLO. The search was performed with the MeSH descriptors "Y Chromosome", "Infertility" and Keyword "microdeletion". results:The literature indicates that deletion of AZF, especially AZFc, is related to azoospermia, oligozoospermia or even infertility. The absence of other loci is also underlined by the evidence: AZFa, AZFb and AZFd, even though the prevalence rates are not equidistant. Surveys also show changes in the male hormone physiology varying the levels of testosterone/LH/FSH as well as modifying the gonadal morphology in individuals affected by Y-chromosome microdeletion. Conclusion:More research is needed focusing on possible deletions that the Y-chromosome may suffer, giving emphasis on their clinical outcomes and correlations with infertility.

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