BSu restriction of DNA from cases exhibiting sex-chromosome abnormalities

Abstract

The restriction endonuclease BSu, an isoschizomer of the enzyme HaeIII, cleaves human DNA to yield classes of fragments that are characteristic of the DNA of individuals having a Y chromosome. The fragments concerned are therefore diagnostic of the presence of Y-chromosome DNA and have been studied here with the intention of confirming the origin of various translocations thought, on other grounds, to involve the Y. The absence of the fragments from DNA of a case exhibiting absence of the fluorescent region of Yq suggests that the DNA concerned maps predominantly to Yq. Normal gender in the absence of the BSu fragments indicates that they do not function in sex determination.

A Deletion Map of the Human Y Chromosome Based on DNA Hybridization

“…3), which corresponds to the quinacrine-bright, heterochromatic, distal part of Yq. This result is in agreement with numerous earlier observations [21,[34][35][36][37][38]. However, the presence of small numbers of DYZJ and/or DYZ2 repeats in other regions of the Y chromosome cannot be excluded.…”

Characterization of a Y/15 translocation by banding methods, distamycin A treatment of lymphocytes and DNA restriction endonuclease analysis

“…The presence of the 3.4 kb Yspecific DNA fragment in the nuclear DNA of the mother clearly demonstrates that the aberrant chromosome 15 is the result of a Y/autosomal translocation. Beyond this, the lack of the 2.1 kb sequence is a further indication that the 3.4 kb and 2.1 repetitive sequences are not mutually interspersed, but tandemly linked as proposed by Kinross et al (1978), Szabo et al (1980) and Schmidtke & Schmid (1980). The distal part of the heterochromatic region in the Y chromosome, where this 2.1 kb sequence is thought to accumulate, would therefore have been lost in this particular Y/15 translocation.…”

The identification of Y chromosome translocations following Distamycin A treatment

“…Therefore, our treatment regimen apparently affects only Yq. Although, perhaps not as definitive in the identification of Yq material as recombinant DNA techniques (Kinross et al 1978, Cooke & Noel 1979, the advantages of DA treatment in- Other phenotypically normal family members carried the translocationtherefore, the family is considered + Proband clinically abnormal due to additional cytogenetic anomaly.…”

“…; Number 6 -Wisniewski 8Higgins (1977); Number 7 -Develing et al (1973); Number 13 -Kinross et al (1978);Curtis (1977);Gilgenkrantz et al (1973);Nielsen et al (1974); Cooke 8Noel (1979); Number 14-Buys et al 1979; Laurent 8 Dutrillaux (1976); Number 15 -Hahnemann 8 Eiberg (1973); Frund et al (1972); Hahnenmann et al (1975); Nielsen et al (1974); Nielsen 8 Rasmussen (1976); Hreidrsson et al (1973); Benitez et al (1979); Verma et al (1978); Cooke 8 Noel (1979); Buckton et al (1980); Pfeiffer et al (1973); Friedrich 8 Nielsen (1972); Noel et al (1971): Nielsen et al (1974); Subrt 8 Blehova (1974); Number 16 -Park et al (1974); Number 18 -Khodr et al (1979); Number 21 -Hillman et al (1974); Number 22 -Nielsen & Rasmussen (1976); de Chieri (1978);Schmid (1979);Kessel et al (1979);Verjaal et al (1978); Lundsteen 8Philip (1973); Reitalu (1973); Friedrich 8Nielsen (1972);Chandley et al (1975); Number X -Khudr 8Benirschke (1973);Khudr et al (1973);Borgaonkar et al (1974);Bernstein et al (1978);Tiepolo et al (1977);Van den Berghe et al (1977).normal.…”