Summary
Three probes each detecting a locus on the proximal long arm of the Y chromosome were partially sequenced. Thus, 3 sets of novel primers were developed which enable PCR detection of these 3 loci. Five previously reported primer sets, 3 on the short arm and each one on the centromere and the distal long arm, were mapped along with the novel three using a mapping panel consisted of 8 patients each with different structural abnormality of the Y chromosome. Now, PCR detection of these 8 loci covering an entire length of the Y chromosome has become possible enabling rapid screening of patients with Y chromosome aberrations.
Similar content being viewed by others
Article PDF
References
Cooke HJ (1976): Repeated sequence specific to human males. Nature262: 182–186
Ellis N, Taylor A, Bengtsson BO, Kidd J, Rogers J, Goodfellow P (1990): Population structure of the human pseudoautosomal boundary. Nature344: 663–665
Human Gene Mapping 11 (1991): Cytogenet Cell Genet58: nos. 1–4
Lucotte G, David F, Mariotti M (1991): Nucleotide sequence of p49a, a genomic Y-specific probe with potential utilization in sex determination. Molec Cell Probes5: 359–363
Nagafuchi S, Tamura T, Nakahori Y, Takano K, Nishi Y, Iwatani N, Kitao M, Hori Y, Konda S, Hasegawa T, Numabe H, Fujieda K, Tanaka T, Hibi I, Nakagome Y (1992): A majority of the marker chromosomes in Japanese patients with stigmata of Turner syndrome are derived from Y chromosomes. Human Genet89: 590–592
Nakagome Y, Nagafuchi S, Seki S, Nakahori Y, Tamura T, Yamada M, Iwaya M (1991a): A repeating unit of the DYZ1 family on the human Y chromosome consists of segments with partial male-specificity. Cytogenet Cell Genet56: 74–77
Nakagome Y, Seki S, Fukutani K, Nagafuchi S, Nakahori Y, Tamura T (1991b): PCR detection of distal Yp sequences in an XX true hermaphrodite. Am J Med Genet41: 112–114
Nakahori Y, Mitani K, Yamada M, Nakagome Y (1986): A human Y-chromosome specific repeated DNA family (DYZ1) consists of a tandem array of pentanucleotides. Nucleic Acids Res14:7569–7580
Nakahori Y, Tamura T, Nagafuchi S, Fujieda K, Minowada S, Fukutani K, Fuse H, Hayashi K, Kuroki Y, Fukushima Y, Agematsu K, Kuno T, Kaneko S, Yamada K, Kitagawa T, Nonomura M, Fukuda S, Kusano M, Onigata S, Hibi I, Nakagome Y (1991a): Molecular cloning and mapping of 10 new probes on the human Y chromosome. Genomics9: 765–769
Nakahori Y, Takenaka O, Nakagome Y (1991b): A human X-Y homologous region encodes “Amelogenin”. Genomics9: 264–269
Nakahori Y, Hamano K, Iwaya M, Nakagome Y (1991c): Sex identification by polymerase chain reaction using X-Y homologous primer. Am J Med Genet39: 472–473
Saiki RK, Gelfand DH, Stoffel S, Scharf SJ, Higuchi R, Horn GT, Mullis KB, Erlich HA (1988): Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science239: 487–491
Scully RE (1970): Gonadoblastoma; A review of 74 cases. Cancer25: 1340–1356
Sinclair AH, Berta P, Palmer MS, Hawkins JR, Griffiths BL, Smith MJ, Foster JW, Frischauf A, Lovell-Badge R, Goodfellow PN (1990): A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature346: 240–244
Tsukahara M, Matsuura S, Kishi F, Yoshida A, Kajii T (1990): Isolation of a Y chromosomal DNA sequence and its clinical application. Jpn J Hum an Genet35: 331–339
Vergnaud G, Page DC, Simmler M, Brown L, Rouyer F, Noel B, Botstein D, de la Chapelle A, Weissenbach J (1986): A deletion map of the human Y chromosome based on DNA hybridization. Am J Hum Genet38: 109–124
Witt M, Erickson RP (1989): A rapid method for detection of Y-chromosomal DNA from dried blood specimens by the polymerase chain reaction. Hum Genet82: 271–274
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Nagafuchi, S., Seki, S., Nakahori, Y. et al. PCR detection of structurally abnormal Y chromosomes. Jap J Human Genet 37, 187–193 (1992). https://doi.org/10.1007/BF01900712
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF01900712
Key Words
This article is cited by
-
Histologic Analysis of Gonadal Tissue in Patients with Ullrich-Turner Syndrome and Derivative Y Chromosomes
Pediatric and Developmental Pathology (2005)
-
A point mutation at ATP-binding region of the ALD gene in a family with X-linked adrenoleukodystrophy
Japanese journal of human genetics (1994)
-
Sex identification by polymerase chain reaction using a Y-autosome homologous primer set
Japanese journal of human genetics (1993)