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4. Hypothesis Testing and Categorical Data
                              of allele frequencies among patients, controls, and the combined sample,
                              respectively. To test the hypothesis p = q, we compute separate maximum
                              likelihoods L u (ˆ p), L n(ˆ q), and L c(ˆ r) for the ulcer patients, normal controls,
                              and combined sample under the assumption of Hardy-Weinberg equilib-
                              rium. The appropriate likelihood ratio statistic is
                                                       L u (ˆ p)L n (ˆ q)                    61
                                             2
                                            χ 2  =2 ln
                                                          L c(ˆ r)
                                                =2 ln L u (ˆ p)+ 2 ln L n (ˆ q) − 2ln L c(ˆ r).
                                                            2
                              The degrees of freedom of the χ are the difference 4 − 2 = 2 between
                              the number of independent parameters for the two populations treated
                              separately versus in combination.
                                Gene counting for the normal controls yields the maximum likelihood
                              estimates ˆ q A = .2492, ˆ q B = .0655, and ˆ q O = .6853 and for the combined
                              sample ˆ r A = .2335, ˆ r B = .0588, and ˆ r O = .7077. Straightforward compu-
                              tations yield
                                       ln L u (ˆ p)= −173.903 − 189.955 − 97.750 − 49.963
                                                = −511.571
                                       ln L n (ˆ q)= −238.134 − 253.114 − 163.050 − 58.161
                                                = −712.459
                                       ln L c(ˆ r)= −414.198 − 443.848 − 261.644 − 107.846
                                                = −1227.536.

                                                     2
                              Hence, the homogeneity χ =2 (−511.571 − 712.459 + 1227.536) = 7.012.
                                                     2
                              This statistic is significant at the .05 level but not at the .01 level. Sub-
                              sequent studies have substantiated the association between duodenal ulcer
                              and blood type O.
                              Example 4.2.2 Color Blindness
                                The data for this color-blindness example were mentioned in Problem
                              2 of Chapter 2. If Hardy-Weinberg equilibrium does not hold, then we
                              postulate a probability q B for normal females, q b for color-blind females,
                              r B for normal males, and r b for color-blind males. The only functional
                              relationship tying these frequencies together are the constraints q B +q b =1
                              and r B + r b = 1. If in a random sample there are f B normal females, f b
                              color-blind females, m B normal males, and m b color-blind males, then the
                              likelihood of the sample is

                                             f B + f b       m B + m b
                                                     q f B f b        r m B m b .
                                                                          r
                                                         q
                                                      B  b             B   b
                                                f B            m B
                                                                          q
                                                                                     q
                              Maximizing this likelihood leads to the estimates ˆ B =  f B  ,ˆ b =  f b  ,
                                                                               f B +f b   f B +f b
                                               r
                               ˆ r B =  m B  , and ˆ b =  m b  .
                                    m B +m b        m B +m b
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