Carrier screening

R4. Rimoin, D. L., Greenwald, S., et al, Unique considerations for genetic counseling in conununity-based carrier screening programs. Prog. Clin. Biol Res. 18, 297-304 (1977). 

The question of whether the carriers screen the hole and so prevent the formation of any exciton level has not been discussed recently (see Cauchois and Mott 1949). Gearly this is a qualitative rather than an exact question, for the... 

The absorption edge of (Ga,Mn)As is not sharp, as shown in fig. 20 (Kuroiwa et al. 1998 Szczytko et al. 1999b). This is probably due to impurity band formation caused by the high concentration of ionized Mn and compensating donors (Kuroiwa et al. 1998). Even below the fundamental absorption edge, the absorption coefficient is rather large due to free-carrier (Casey et al. 1975) and intra-Mn absorption. There is no report on the observation of exciton states or photoluminescence, which is probably due to non-radiative recombination, carrier screening, and the formation of an impurity band (Ando et al. 1999). 

ACOG Committee on Genetics. Prenatal and preconceptional carrier screening for genetic diseases in individuals of Eastern European Jewish descent. Obstet Gynecol 2004 104 425 428. 

Brown WT, Houck GE, Jeziorowska A, et al. Rapid fragile X carrier screening and prenatal diagnosis using a non-radioactive PCR test. JAMA 270 1569-1575,1993. 

The question of whether genetic screening should be voluntary or mandatory is controversial. So is the goal of the screening— whether to detect afflicted individuals or carriers. Screening can be performed at various life stages, such as prenatal, neonatal, newborn, or premarital. 

Grody WW, Cutting GR, Klinger KW, Richards CS, Watson MS, Desnick RJ. Laboratory standards and, guidelines for population-based cystic fibrosis carrier screening. Genet Med 2001 3 149-541... 

CFTR screening panel will change as carrier screening evolves and the program is critically evaluated. ... 

The American College of Obstetricians and Gynecologists. Preconception and prenatal carrier screening for CF clinical and laboratory guidelines. 2001 (http//www.acog.org). 

Gilbert R Cystic fibrosis carrier screening steps in the development of a mutation panel. Genet Testing 2001 5 223-7. 

Genetics. Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med 2001 3 149-54. 

Reed MR, Coty WA. eSensor a microarray technology based on electrochemical detection of nucleic acids and its application to cystic fibrosis carrier screening, in microarrays preparation, detection methods, data analysis, and applications. In Dill K, Liu R, Grodzinski P, editors. Kluwer Springer-Verlag 2008 in press. 

Enzyme screening of the serum remains an essential component of carrier screening in non-Jewish carriers because of uncommon mutations. DNA screening can be best used as an adjunct to enzyme testing to exclude known HEXA pseudo-deficiency alleles (Akerman et al., 1997). Tay-Sachs disease is approximately 100 times more common in infants of Ashkenazi Jewish ancestry (central-eastern Europe) than in non-Jewish infants (Rimoin et al., 1977). The most frequent (>80%) DNA lesion in Tay-Sachs disease in Ashkenazi Jews is a... 

Rimoin D.L., Greenwald S., Nathan T.J., Kaback M.M., Unique considerations for genetic counseling in community-based carrier screening programs. Progress in clinical and biological research 18 (1977) 297-304. 

Chehab, F. F. and Wall, F. (1992) Detection of multiple cystic fibrosis mutations by reverse dot blot hybridization a technology for carrier screening. Hum. Genetics 99, 163-168. 

Kaback, M., Lim-Steele, J., Dabholkar, D., Brown, D., Levy, N., and Zeiger, K., 1993, Tay-Sachs disease—Carrier screening, prenatal diagnosis, and the molecular era An international perspective, J. Am. Med. Assoc. 270 2307-2315. 

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