PCR detection of structurally abnormal Y chromosomes

Nagafuchi, Shigeo; Seki, Satoko; Nakahori, Yutaka; Tamura, Takashi; Numabe, Hironao; Nakagome, Yasuo

doi:10.1007/bf01900712

Cited by 27 publications

(15 citation statements)

References 18 publications

(18 reference statements)

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“…In addition, two STS's (sY159 and sY160) were amplified by single PCR to determine if the deletions encompassed heterochromatic region at distal Yq. We also used primers specific to PABX and PABY genes to amplify the junction of the Xp and Yp pseudoautosomal region, respectively [Nagafuchi et al, 1992]. All possible deletions detected by multiplex PCR were always confirmed by single PCR.…”

Section: Cytogenetic Studymentioning

confidence: 99%

Ring (Y) in two azoospermic men

Lin

et al. 2004

American J of Med Genetics Pt A

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We have identified two azoospermic men with r(Y) in 312 infertile men presenting with non-obstructive azoospermia or oligozoospermia. Their karyotypes were 45,X [9]/46,X, r(Y)(p11q11) [11] (case 1), and 46,X,r(Y)(p11q11) (case 2), respectively. In both cases, the Yp breakpoints were located within the pseudoautosomal region. Both cases had extensive deletions of azoospermia factors (AZFs). Case 1 also had deletion of the putative growth controlling gene (GCY) and the Yq breakpoint was located between sY741 and USP9Y. The Yq breakpoint was located between sY105 and sY109 in case 2. Both cases did not have Turner stigmata except short stature in case 1. By a combination of cytogenetic and molecular genetic tools, we showed r(Y) arose from breakage in both arms of the chromosome with subsequent fusion of two broken ends of the centric fragment to form a continuous ring. Spermatogenic defects in men with r(Y) may result from deletion of Y-linked AZFs combined with synaptic failure.

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Section: Cytogenetic Studymentioning

confidence: 99%

Ring (Y) in two azoospermic men

Lin

et al. 2004

American J of Med Genetics Pt A

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“…The primer sequences and the PCR condition have been reported in Genome Database (GDB), except for those for AMELY which detects X-and Y-speci®c bands concomitantly [Ngafuchi et al, 1992].…”

Section: Pcr Analysis For Yp Locimentioning

confidence: 99%

47,XXX male: A clinical and molecular study

et al. 2001

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We report a 53-year-old Japanese male with a 47,XXX karyotype. His clinical features included hypoplastic scrotal testes (4 ml bilaterally), normally formed small penis (3.8 cm), relatively poor pubic hair development (Tanner stage 3), gynecomastia, age-appropriate male height (159.1 cm), and mental retardation (verbal IQ of 56). Serum testosterone was markedly reduced (0.6 nmol/L). A needle biopsy showed severe testicular degeneration. FISH analysis revealed complex mosaicism consisting of (1) 47,XXX cells with a single copy of SRY (n = 177), two copies of SRY (n = 3), and no SRY (n = 1); (2) 46,XX cells with a single copy of SRY (n = 9) and no SRY (n = 3); (3) 45,X cells with no SRY (n = 5); and (4) 48,XXXX cells with a single copy of SRY (n = 1) and two copies of SRY (n = 1). PCR analysis showed the presence of Yp portion with the breakpoint between DYS264 and AMELY. Microsatellite analysis demonstrated three alleles for DMD and AR. X-inactivation analysis for the methylation status of the AR gene showed random inactivation of the three X chromosomes. The results suggest that this 47,XXX male has resulted from abnormal X-Y interchange during paternal meiosis and X-X nondisjunction during maternal meiosis. Complex mosaicism may be due to the age-related increase in mitotic nondisjunction which is prone to occur in rapidly dividing lymphocytes and to the presence of two randomly inactivated X chromosomes which may behave asynchronously during mitosis, and clinical features of this male would primarily be explained by the genetic information on the SRY (+) der(X) chromosome and his advanced age.

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“…The FISH probes used are cY29 for the Xp/Yp telomeric region [Ning et al, 1996], 34F5 for SHOX [Rao et al, 1997], pHu14 for SRY (Department of Genetics, Cambridge University), an ␣-satellite probe for DYZ3 (Oncor), a cosmid probe for DAZ (SRL), and c8.2/1 for the Xq/Yq telomeric region [Ning et al, 1996]. The PCR primer sequences for AMELY have been described in Nagafuchi et al [1992], and those for the remaining loci have been reported in Genome Database. DNA of the patient and the parents (Fig.…”

Section: Dna Analysismentioning

confidence: 99%

Structural analysis of a rare rearranged Y chromosome and its bearing on genotype–phenotype correlation

et al. 2000

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We report on a 9-year-old boy with a rare rearranged Y chromosome and borderline short stature (-2.0 SD). Standard metaphase chromosome analysis indicated a 46,X,i(Y)(q1O) karyotype, but high resolution G-banding showed an asymmetric band pattern for the rearranged Y chromosome. FISH and DNA studies for a total of 15 different Y chromosomal loci or regions showed that the rearranged Y chromosome was accompanied by: 1) a partial deletion of the short arm pseudoautosomal region (PAR1) involving SHOX, with the breakpoint distal to DXYS85; and 2) a partial duplication of Yq, with the breakpoint proximal to DAZ. The karyotype was determined as 46,X,?i(Y)(q1O).ish der(Y)(Yqter--> Yp11.3::Yq11.2-->Yqter)(DAZ++,DYZ3+,SRY +, SHOX-). The X chromosome and the autosomes were normal. The results suggest that haploinsufficiency of SHOX is primarily responsible for the borderline short stature, and that the deletion of the PAR1 may result in spermatogenic failure due to defective X-Y pairing and recombination in the PAR1.

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PCR detection of structurally abnormal Y chromosomes

Cited by 27 publications

References 18 publications

Ring (Y) in two azoospermic men

Ring (Y) in two azoospermic men

47,XXX male: A clinical and molecular study

Structural analysis of a rare rearranged Y chromosome and its bearing on genotype–phenotype correlation

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