Human cDNA probe (cCW147) detects RFLP on Chromosome 12 (D5S9)

Human cDNA probe (OL167,D21S109) detects RFLP on chromosome 21.

Human cDNA probe detects RFLP on chromosome 12, OL 202 (HGM8 designated no. D12S9).

SOURCE AND DESCRIPTION OF CLONE: 0.6 kb anonymous lymphocyte cDNA cloned into the PstI site of pUR291. POLYMORPHISM: Bglll identifies a two allele polymorphism with a band at either 5.2 kb (A 1) or 5.0 kb (A 2) and invariant bands at approximately

Human aldolase B cDNA detects a Pvu II RFLP in healthy individuals

CODING SEQUENCE: Human aldolase B gene (ALDOB). The gene is a single copy and its chromosomal location is 9q21.3-q32 MENDELIAN INHERITANCE: Demonstrated in one family. The mother and the son are heterozygotes, whereas the father is a homozygote. OTHER COMMENTS: Hereditary fructose intolerance is due to a lack of aldolase B activity in liver. Although we observed no 2.3 kb homozygotes, no sign o...

Bgl II RFLP recognized by a human IRBP cDNA localized to chromosome 10.

SOURCE/DESCRIPTION: A 2184 bp cDNA (H.4 IRBP) encoding human interstitial retinol-binding protein (IRBP; Fong et al., 1984) isolated from a human retina cDNA library in XgtlO by screening with a bovine IRBP cDNA probe (B.23; Liou et al., 1986). POLYMORPHISM: Bgl II (AGATCT) identifies a 2-allele polymorphism with bands at 6.3 kb (A1) and 4.3 kb (A2). There is a strong invariant band at 2.5 kb. ...

An XmnI RFLP detected with a probe for the CYP2E gene locus on chromosome 10.

Source/Description: A 1.6 Kbp fragment of the cDNA clone for the human ethanol inducible cytochrome P450 gene cloned in pUC18 at the EcoRI restriction site (Song and Gonzalez, 1986). Polymorphism: Xmnl detects a two allele polymorphism with bands at 16 kb (Al), 11.4 and 4.6 kb (A2). Frequency: A total of 37 unrelated individuals of Caucasian origin were screened: Al 0.81; A2 0.19.