Shi-Han Chen

Enolase: human tissue distribution and evidence for three different loci.

Four different cellogel electrophoretic patterns of enolase were found in human tissue extracts. They consisted cf:

Genetic Markers in Blood in a Canadian Eskimo Population with a Comparison of Allele Frequencies in Circumpolar Populations

38 genetically determined marker systems were examined in blood samples obtained from a relatively isolated population of Eskimos living in the Eastern Canadian Arctic. 2,3-DPGM, sGOT, sGPT, PGM1

A Dominant form of Congenital Stationary Night Blindness (adCSNB) in a Large Chinese Family: adCSNB in Chinese

A pedigree of congenital stationary night blindness (CSNB) is described in a large Chinese family. The clinical description, pedigree, dark adaptation and elctroretinogram (ERG) studies indicate that the patients have an autosomal dominant form (ad) of CSNB. The disorder has been transmitted through at least 12 generations with over 40 affected individuals identified. The ERG data reveal that affected persons have severely diminished b‐wave responses to dim light, but normal a‐wave and subnormal b‐wave responses to maximum light stimuli. The dark adaptation curves of three patients show a monophase curve, typical for night blindness. We have excluded the five previously known mutations in the three genes (RHO, PDE6B and GNAT1) associated with adCSNB, and linkage studies have excluded tight linkage between the disease locus and markers associated with these three genes. Thus, this family has adCSNB caused by a different gene from the previously identified RHO, PDE6B, and GNAT1.

Haplotype analysis and polymorphic frequency data at two factor IX loci (F9-192 and F9-Hha1) in a Chinese population.

Gene frequencies and haplotypes for two factor IX markers, F9-192 and F9-Hha1, were determined in a Chinese population. The frequencies for F9-192 are 0.86 for A and 0.14 for G. For F9-Hha1, the gene frequencies are 0.69 for - and 0.31 for +. Haplotype analysis revealed that the two polymorphic sites are in linkage equilibrium and, thus, are useful markers for genetic counseling of Asian families in which hemophilia B exists.